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Term:
Linear Skin Defects with Multiple Congenital Anomalies 2 (DOID:9003701)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
3p- syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Adams-Oliver syndrome +   
ADULT syndrome  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
AL-RAQAD SYNDROME  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alves Castelo dos Santos Syndrome 
Amish Lethal Microcephaly  
Anal Sphincter Dysplasia 
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Aphalangia Syndactyly Microcephaly 
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Epibulbar Dermoids  
Aplasia Cutis Congenita with Intestinal Lymphangiectasia 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
AREDYLD Syndrome 
Arthrogryposis and Ectodermal Dysplasia 
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Asparagine Synthetase Deficiency  
Asymmetric Short Stature Syndrome 
Ataxia-Microcephaly-Cataract Syndrome 
Au-Kline Syndrome  
autosomal dominant microcephaly +   
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baetz-Greenwalt syndrome 
Baker Vinters Syndrome 
Baraitser Brett Piesowicz Syndrome 
Baraitser-Winter syndrome +   
Basan Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Arch Syndrome X-Linked 
Branchial Cleft Anomalies 
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Calvarial Hyperostosis 
CAMFAK Syndrome 
Camptodactyly Syndrome Guadalajara Type 2 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
cardiofaciocutaneous syndrome +   
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cerebellar Ataxia Ectodermal Dysplasia 
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
CHITAYAT SYNDROME  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
CK Syndrome  
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Clouston syndrome  
cocoon syndrome  
CODAS syndrome  
Cohen Syndrome  
Combined Oxidative Phosphorylation Deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Ectodermal Dysplasia with Hearing Loss 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Crouzon syndrome +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
Deafness with Anhidrotic Ectodermal Dysplasia 
Dermatoosteolysis Kirghizian Type 
dermatopathia pigmentosa reticularis  
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
Digitorenocerebral Syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
DNA ligase IV deficiency  
Donohue syndrome  
Dubowitz syndrome 
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant  
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE  
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE  
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS  
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 7, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectodermal Dysplasia, Pure Hair-Nail Type 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
EEC syndrome +   
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Erosive Arthropathy 
Euhidrotic Ectodermal Dysplasia 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Feingold syndrome +   
Fg Syndrome 5 
Filippi Syndrome  
Floating-Harbor Syndrome  
focal dermal hypoplasia +   
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Freire-Maia Odontotrichomelic Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Genitopatellar Syndrome  
Goldberg-Shprintzen syndrome  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Hadziselimovic Syndrome 
Halal Setton Wang Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hay Wells Syndrome Recessive Type 
Hecht Scott Syndrome 
Hennekam syndrome +   
Hersh Podruch Weisskopk Syndrome 
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 
holoprosencephaly +   
Hoyeraal Hreidarsson Syndrome  
Humeroradial Synostosis with Craniofacial Anomalies 
Hypertelorism +   
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypohidrotic ectodermal dysplasia +   
Hypospadias-Mental Retardation Syndrome 
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
Jorgenson Lenz Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Kapur Toriello Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM  
Kosztolanyi Syndrome 
Ladda Zonana Ramer syndrome 
Lambotte Syndrome 
Larsen-like syndrome B3GAT3 type  
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
LEOPARD syndrome +   
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Linear Skin Defects with Multiple Congenital Anomalies 2  
Linear Skin Defects with Multiple Congenital Anomalies 3  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lowry Wood Syndrome 
Lujan Fryns Syndrome  
MacDermot Winter Syndrome 
Macrocephaly +   
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marshall Syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
MEHMO syndrome  
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly +   
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
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 Abnormalities, Micromelia, and Mental Retardation 
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 Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 7  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Morillo-Cucci Passarge Syndrome 
Mowat-Wilson syndrome  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Naegeli Syndrome  
NEMO Mutation with Immunodeficiency 
Neu-Laxova syndrome 1  
Neurocutaneous Syndromes +   
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 PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Noonan syndrome +   
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculootofacial Dysplasia +   
Oculopalatocerebral Syndrome 
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Orbital Margin, Hypoplasia of 
orofacial cleft 7 +   
orofaciodigital syndrome +   
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
pachyonychia congenita +   
Paine Syndrome 
Pallister W Syndrome 
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Papillon-Lefevre disease +   
Partington Anderson Syndrome 
Pashayan Syndrome 
PHGDH deficiency  
Photosensitive Trichothiodystrophy 1  
Pinheiro Freire-Maia Miranda Syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
porencephaly +   
Posterior Exchondrosis of Pinna 
Potato Nose  
Preauricular Fistulae, Congenital 
Prieto syndrome 
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Raine Syndrome  
Rajab Syndrome  
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Rommen Mueller Sybert Syndrome 
Rosselli-Gulienetti Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say Meyer Syndrome 
Say Syndrome 
SC phocomelia syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
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  
Sener Syndrome 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Splenogonadal Fusion Limb Defects Micrognatia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloocular Syndrome, Autosomal Recessive  
Stromme syndrome  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Taurodontia Absent Teeth Sparse Hair 
Teebi Kaurah Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tetrasomy X 
Tollner Horst Manzke Syndrome 
Total Anonychia with Microcephaly 
Tricho-Dento-Osseous Syndrome  
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
Tsukahara Syndrome 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Weaver syndrome  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winship Viljoen Leary Syndrome 
Winter Shortland Temple Syndrome  
Worth's syndrome  
Yunis-Varon syndrome  
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL DYSMORPHISM, AND OTHER CONGENITAL ANOMALIES ;   APLCC ;   LSDMCA2
Primary IDs: OMIM:300887
Alternate IDs: RDO:9000176 ;   RDO:9001634

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