Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

Preferred Label : Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy;

Symbol : NEDMLHB;

Type : Phenotype, molecular basis known;

Prefixed ID : #619972;

Details

Origin ID

619972;

UMLS CUI

C5774185;

Currated CISMeF NLP mapping
- Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy [NCIt concept]
Genes related to phenotype
- Tata box-binding protein-associated factor 8 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy [NCIt concept]

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