Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

Preferred Label : Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination;

Symbol : NEDMEHM;

CISMeF acronym : NEDMEHM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 5,10-methenyltetrahydrofolate synthetase gene (MTHFS, 604197.0001);

Laboratory abnormalities : Low-normal CSF levels of 5-methyl-tetrahydrofolate (5-MTHF);

Prefixed ID : #618367;

Details

Origin ID

618367;

UMLS CUI

C5193057;

Genes related to phenotype
- 5,10-methenyltetrahydrofolate synthetase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Delayed myelination [HPO term]
- Exaggerated startle response [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Microcephaly [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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