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Term:
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination (DOID:9000512)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (0) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3p- syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
AL-RAQAD SYNDROME  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
ALKURAYA-KUCINSKAS SYNDROME  
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Amish Lethal Microcephaly  
Aphalangia Syndactyly Microcephaly 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
Attention Deficit and Disruptive Behavior Disorders +   
autosomal dominant mental retardation 20  
Autosomal Dominant Mental Retardation 60  
autosomal dominant microcephaly +   
autosomal recessive spinocerebellar ataxia 12  
Baetz-Greenwalt syndrome 
BAKER-GORDON SYNDROME  
Baraitser Brett Piesowicz Syndrome 
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
Cerebellar Hypoplasia with Endosteal Sclerosis  
Child Behavior Disorders +   
Childhood Schizophrenia  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
CK Syndrome  
Coffin Syndrome 1 
Cohen Syndrome  
communication disorder +   
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
developmental coordination disorder  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Developmental Disabilities +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Drug Resistant Epilepsy +   
Dubowitz syndrome 
Dysmyelinating Leukodystrophy with Oligodontia 
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 39  
electroclinical syndrome +   
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy Telangiectasia 
Epilepsy, Early-Onset, Vitamin B6-Dependent  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Febrile Seizures +   
Feingold syndrome +   
Filippi Syndrome  
Focal Cortical Dysplasia of Taylor  
focal epilepsy +   
Forsythe-Wakeling Syndrome 
GABRIELE-DE VRIES SYNDROME  
Galloway-Mowat syndrome +   
Generalized Epilepsy +   
Glycosylphosphatidylinositol Deficiency +   
GOMBO Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Halal Syndrome 
HAREL-YOON SYNDROME  
Hersh Podruch Weisskopk Syndrome 
Hot Water Epilepsy +  
Hoyeraal Hreidarsson Syndrome  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypomyelinating leukodystrophy +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Hypospadias-Mental Retardation Syndrome 
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
intellectual disability +   
JABERI-ELAHI SYNDROME  
Jorgenson Lenz Syndrome 
Kahn-Kahn-Katsanis Syndrome  
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Kifafa Seizure Disorder 
Kohlschutter Tonz Syndrome  
Krabbe disease +   
Lambotte Syndrome 
Landau-Kleffner syndrome  
learning disability +   
Lennox-Gastaut syndrome  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Lopes-Maciel-Rodan Syndrome  
Lowry Wood Syndrome 
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations  
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
metachromatic leukodystrophy +   
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
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 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, Syndromic 13  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
mutism  
Myoclonic Epilepsies +   
Neu-Laxova syndrome 1  
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES  
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES 
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS  
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 BRAIN ATROPHY  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEDMEHM is caused by compound heterozygous mutation in the MTHFS gene on chromosome 15q25. (OMIM)
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES 
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Nijmegen Breakage Syndrome-Like Disorder  
O'DONNELL-LURIA-RODAN SYNDROME  
Oculopalatocerebral Syndrome 
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Optic Atrophy with Demyelinating Disease of CNS 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Paine Syndrome 
Partington Anderson Syndrome 
Pervasive Child Development Disorders +   
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
PILAROWSKI-BJORNSSON SYNDROME  
Pitt-Hopkins syndrome +   
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Popov-Chang Syndrome  
porencephaly +   
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
Pyridoxine-Dependent Epilepsy  
Raine Syndrome  
Rajab Syndrome  
Ramon Syndrome 
Reactive Attachment Disorder 
Retinal Degeneration and Epilepsy 
Retinal Vasculopathy with Cerebral Leukodystrophy  
Rud Syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation 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  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
separation anxiety disorder  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHUKLA-VERNON SYNDROME  
Silengo Lerone Pelizza Syndrome 
Skraban-Deardorff Syndrome  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
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 
Spinocerebellar Ataxia with Epilepsy  
spondyloepimetaphyseal dysplasia, Genevieve-type  
STANKIEWICZ-ISIDOR SYNDROME  
status epilepticus +   
stereotypic movement disorder +   
Stromme syndrome  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Teebi Kaurah Syndrome 
tic disorder +   
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Trichohepatoneurodevelopmental Syndrome  
Tsukahara Syndrome 
Ventriculomegaly  
visual epilepsy +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Winship Viljoen Leary Syndrome 
Wittwer Syndrome 
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: MTHFS-RELATED CONDITION ;   NEDMEHM
Primary IDs: OMIM:618367

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