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Ontology Browser

Term:
pseudo-TORCH syndrome 1 (DOID:0050656)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
microcephaly +     
3-M syndrome +   
3-Methylcrotonyl-CoA carboxylase deficiency +   
3-methylglutaconic aciduria type 1  
3-methylglutaconic aciduria type 3  
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria type 8  
3-methylglutaconic aciduria type 9  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3p- syndrome 
ABCD syndrome  
abetalipoproteinemia +   
Absent Eyebrows and Eyelashes with Mental Retardation 
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IA  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
adult spinal muscular atrophy  
agammaglobulinemia 4  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
AL-RAQAD SYNDROME  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
alopecia universalis +   
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Amelogenesis Imperfecta Type 3C  
Amish Lethal Microcephaly  
Antley-Bixler syndrome +   
Aphalangia Syndactyly Microcephaly 
ARC syndrome +   
arrhythmogenic right ventricular dysplasia 11  
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy +   
Ataxia-Microcephaly-Cataract Syndrome 
Athabaskan brainstem dysgenesis syndrome  
atransferrinemia  
atrichia with papular lesions  
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal dominant microcephaly +   
autosomal recessive Alport syndrome  
autosomal recessive centronuclear myopathy +   
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal hereditary motor neuronopathy +   
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hyaline body myopathy  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
Autosomal Recessive Robinow Syndrome 2  
autosomal recessive type IV Ehlers-Danlos syndrome 
Baetz-Greenwalt syndrome 
Baraitser Brett Piesowicz Syndrome 
Bardet-Biedl syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
Bloom syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
Brachydactyly, Type A2, With Microcephaly 
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
cartilage-hair hypoplasia  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CD3epsilon deficiency 
CD3gamma deficiency 
CEDNIK syndrome  
Charcot-Marie-Tooth disease axonal type 2H 
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2S  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2X  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2R  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4A  
Charcot-Marie-Tooth disease type 4B1  
Charcot-Marie-Tooth disease type 4B2  
Charcot-Marie-Tooth disease type 4B3  
Charcot-Marie-Tooth disease type 4C  
Charcot-Marie-Tooth disease type 4D  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 4F  
Charcot-Marie-Tooth disease type 4G  
Charcot-Marie-Tooth disease type 4H  
Charcot-Marie-Tooth disease type 4J  
Charcot-Marie-Tooth disease type 4K  
Chediak-Higashi syndrome +   
choreaacanthocytosis  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
CK Syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
Cockayne syndrome +   
cocoon syndrome  
CODAS syndrome  
Cohen Syndrome  
cold-induced sweating syndrome +   
combined malonic and methylmalonic acidemia  
congenital adrenal insufficiency  
congenital amegakaryocytic thrombocytopenia  
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
congenital disorder of glycosylation Ia  
congenital disorder of glycosylation Iaa  
congenital disorder of glycosylation Ib  
congenital disorder of glycosylation Ic  
congenital disorder of glycosylation Id  
congenital disorder of glycosylation Ie  
congenital disorder of glycosylation If  
congenital disorder of glycosylation Ig  
congenital disorder of glycosylation Ih  
congenital disorder of glycosylation Ii  
congenital disorder of glycosylation Ij  
congenital disorder of glycosylation Ik  
congenital disorder of glycosylation Il  
congenital disorder of glycosylation Im  
congenital disorder of glycosylation In  
congenital disorder of glycosylation Ip  
congenital disorder of glycosylation Iq  
congenital disorder of glycosylation Ir  
congenital disorder of glycosylation It  
congenital disorder of glycosylation Iu  
congenital disorder of glycosylation Iw  
congenital disorder of glycosylation Ix  
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
congenital generalized lipodystrophy +   
congenital generalized lipodystrophy type 4  
congenital hereditary endothelial dystrophy of cornea  
congenital hypotrichosis with juvenile macular dystrophy  
congenital leptin deficiency  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy merosin-positive 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 4B  
congenital myasthenic syndrome 4C  
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
cortical dysplasia-focal epilepsy syndrome  
cortisone reductase deficiency 1  
craniofacial-deafness-hand syndrome  
craniolenticulosutural dysplasia  
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
cystathioninuria  
cystic fibrosis +   
cystinosis +   
D-2-hydroxyglutaric aciduria 1  
diastrophic dysplasia +   
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
Dubowitz syndrome 
Dyggve-Melchior-Clausen disease +   
dystonia 16  
dystonia 27  
dystonia 5  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
EAST syndrome  
Ehlers-Danlos syndrome progeroid type +   
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
factor XII deficiency  
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
familial temporal lobe epilepsy 5  
Fanconi anemia complementation group A +   
Fanconi anemia complementation group C  
Fanconi anemia complementation group D1  
Fanconi anemia complementation group D2  
Fanconi anemia complementation group E  
Fanconi anemia complementation group I  
Fanconi anemia complementation group L  
Fanconi anemia complementation group O  
Fanconi anemia complementation group P  
Fanconi anemia complementation group Q  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fatal infantile hypertonic myofibrillar myopathy  
Feingold syndrome +   
fibular hypoplasia and complex brachydactyly  
Filippi Syndrome  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Forsythe-Wakeling Syndrome 
Fraser syndrome +   
Fuhrmann syndrome  
fumarase deficiency  
Galloway-Mowat syndrome +   
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
geroderma osteodysplasticum  
giant axonal neuropathy 1  
Gitelman syndrome  
glutaric acidemia I  
Goldberg-Shprintzen syndrome  
GOMBO Syndrome 
Griscelli syndrome +   
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Hadziselimovic Syndrome 
Halal Syndrome 
hereditary sensory and autonomic neuropathy type 2A  
hereditary sensory and autonomic neuropathy type 2B  
hereditary sensory and autonomic neuropathy type 5  
hereditary sensory and autonomic neuropathy type 6  
hereditary sensory and autonomic neuropathy type 8  
hereditary sensory neuropathy type 2C  
hereditary sensory neuropathy type 4  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 62  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Hermansky-Pudlak syndrome +   
Hersh Podruch Weisskopk Syndrome 
histiocytosis-lymphadenopathy plus syndrome  
Hoyeraal Hreidarsson Syndrome  
hydrolethalus syndrome +   
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
inflammatory bowel disease 25  
inflammatory bowel disease 28  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
intermediate spinal muscular atrophy  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
Jackson-Weiss syndrome  
JMP syndrome  
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
junctional epidermolysis bullosa Herlitz type  
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Kahrizi syndrome  
karyomegalic interstitial nephritis  
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Kufor-Rakeb syndrome  
Lambotte Syndrome 
Laron syndrome +   
Larsen-like syndrome B3GAT3 type  
late-adult onset retinitis pigmentosa 
Laurence-Moon syndrome  
Leber congenital amaurosis 1  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber congenital amaurosis 2  
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
lethal congenital contracture syndrome +   
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalomyelopathy  
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Lowry Wood Syndrome 
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marinesco-Sjogren syndrome  
McKusick-Kaufman syndrome  
megaconial type congenital muscular dystrophy  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
MEHMO syndrome  
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Microcephalic Osteodysplastic Primordial Dwarfism +   
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
microphthalmia with limb anomalies  
Microphthalmia, Syndromic 13  
microvillus inclusion disease  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A +   
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial pyruvate carrier deficiency  
mitochondrial trifunctional protein deficiency  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
Mowat-Wilson syndrome  
mucosulfatidosis  
mulibrey nanism  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
muscular dystrophy-dystroglycanopathy +   
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
Native American myopathy  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
neonatal diabetes mellitus with congenital hypothyroidism  
nephronophthisis +   
nephrotic syndrome type 1  
nephrotic syndrome type 10  
nephrotic syndrome type 11  
nephrotic syndrome type 12  
nephrotic syndrome type 13  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
nephrotic syndrome type 17  
nephrotic syndrome type 18  
nephrotic syndrome type 19  
nephrotic syndrome type 2  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
Neu-Laxova syndrome 1  
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
neurodevelopmental disorder with midbrain and hindbrain malformations  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
neurogenic arthrogryposis multiplex congenita +   
Nezelof syndrome 
NGLY1-deficiency  
Nijmegen breakage syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
nonphotosensitive trichothiodystrophy +   
Noonan syndrome 2  
Norman-Roberts syndrome  
oculocutaneous albinism +   
Oculopalatocerebral Syndrome 
Oguchi disease-1  
Oguchi disease-2  
Oliver-McFarlane syndrome  
orofaciodigital syndrome V  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
osteoporosis-pseudoglioma syndrome  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
Paine Syndrome 
pantothenate kinase-associated neurodegeneration +   
Papillon-Lefevre disease +   
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 19A  
Parkinson's disease 2  
Parkinson's disease 20  
Parkinson's disease 23  
Parkinson's disease 6  
Parkinson's disease 7  
Partington Anderson Syndrome 
Pendred syndrome  
pentosuria  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
PHARC syndrome  
PHGDH deficiency  
Pierson syndrome  
Pitt-Hopkins-like syndrome 2  
poikiloderma with neutropenia  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
porencephaly +   
postaxial acrofacial dysostosis  
primary autosomal recessive microcephaly +   
primary microcephaly +   
progeria +   
progressive familial intrahepatic cholestasis 1  
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
progressive pseudorheumatoid arthropathy of childhood  
prothrombin deficiency +   
prune belly syndrome +   
PSAT deficiency  
pseudo-TORCH syndrome 1  
An autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria. (DO)
Pseudo-TORCH Syndrome 2  
pseudoxanthoma elasticum +   
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyruvate kinase deficiency of red cells  
Raine Syndrome  
Rajab Syndrome  
rapadilino syndrome  
recessive dystrophic epidermolysis bullosa  
reticular dysgenesis  
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
retinitis pigmentosa with or without situs inversus  
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
right atrial isomerism  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome 1  
Roberts syndrome  
Ruijs-Aalfs syndrome  
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
SC phocomelia syndrome  
Schimke immuno-osseous dysplasia  
Schimke X-Linked Mental Retardation Syndrome 
Schwartz-Jampel syndrome 1  
sclerosteosis 1  
sclerosteosis 2  
Seckel syndrome +   
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
sepiapterin reductase deficiency  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silengo Lerone Pelizza Syndrome 
Silverman-Handmaker type dyssegmental dysplasia  
sitosterolemia  
Sjogren-Larsson syndrome +   
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 9  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
Stromme syndrome  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Teebi Kaurah Syndrome 
temtamy preaxial brachydactyly syndrome  
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
torsion dystonia 17 
torsion dystonia 2  
Total Anonychia with Microcephaly 
transient bullous demolysis of the newborn  
Trichodental Syndrome 
trimethylaminuria  
triple-A syndrome  
Troyer syndrome  
Tsukahara Syndrome 
Ullrich congenital muscular dystrophy +   
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
Van Maldergem syndrome +   
Vici syndrome  
Vohwinkel syndrome  
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Warsaw breakage syndrome  
Werner syndrome +   
Winship Viljoen Leary Syndrome 
Wolcott-Rallison syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
xeroderma pigmentosum +   
XFE progeroid syndrome  
Yunis-Varon syndrome  
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA ;   BLCPMG ;   PTORCH1
Primary IDs: OMIM:251290
Alternate IDs: RDO:0009871
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20727516

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.