Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

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

Symbol : NEDMILEG;

Type : Phenotype, molecular basis known;

Prefixed ID : #619092;

Details

Origin ID

619092;

UMLS CUI

C5436788;

Genes related to phenotype
- Asparaginyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure with generalized onset [HPO term]
- Brain atrophy [HPO term]
- Broad forehead [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Focal-onset seizure [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hyporeflexia [HPO term]
- Impaired tactile sensation [HPO term]
- Intellectual disability [HPO term]
- Large fleshy ears [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Myoclonic seizure [HPO term]
- Myoclonus [HPO term]
- Overfolded helix [HPO term]
- Pectus excavatum [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Retrognathia [HPO term]
- Syndactyly [HPO term]
- Thoracic kyphosis [HPO term]
- Tremor [HPO term]
- Upslanted palpebral fissure [HPO term]
- Widely spaced teeth [HPO term]
- Widened cerebral subarachnoid space [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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