Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation

Preferred Label : Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation;

Symbol : NEDHRIT;

CISMeF acronym : NEDHRIT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Ral GTPase-activating protein, alpha subunit 1 gene (RALGAPA1, 608884.0001);

Prefixed ID : #618797;

Details

Origin ID

618797;

UMLS CUI

C5394091;

Automatic exact mappings (from CISMeF team)
- RALGAPA1 wt Allele [NCIt concept]
Genes related to phenotype
- Ral gtpase-activating protein, catalytic subunit alpha-1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Dry skin [HPO term]
- Flat occiput [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Gingival overgrowth [HPO term]
- Gray matter heterotopia [HPO term]
- High anterior hairline [HPO term]
- Horizontal eyebrow [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Infantile spasms [HPO term]
- Laryngomalacia [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Motor delay [HPO term]
- Neonatal respiratory distress [HPO term]
- Poor head control [HPO term]
- Premature birth [HPO term]
- Protruding tongue [HPO term]
- Recurrent viral infections [HPO term]
- Severe global developmental delay [HPO term]
- Spasticity [HPO term]
- Thick eyebrow [HPO term]
- Tracheomalacia [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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