Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

Preferred Label : Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities;

Symbol : NEDMILG;

Type : Phenotype, molecular basis known;

Prefixed ID : #619091;

Details

Origin ID

619091;

UMLS CUI

C5436783;

Genes related to phenotype
- Asparaginyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Arachnoid cyst [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure with generalized onset [HPO term]
- Cerebral white matter hypoplasia [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Flexion contracture [HPO term]
- Focal-onset seizure [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Hypotelorism [HPO term]
- Impaired tactile sensation [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Myoclonic seizure [HPO term]
- Pachygyria [HPO term]
- Peripheral neuropathy [HPO term]
- Scoliosis [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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