Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties

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

Symbol : NEDRIHF;

CISMeF acronym : MRD31;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 31; MRD31;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the purine-rich element-binding protein A gene (PURA, 600473.0001);

Prefixed ID : #616158;

Details

Origin ID

616158;

UMLS CUI

C4015357;

Automatic exact mappings (from CISMeF team)
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [ORDO Disease]
- autosomal dominant non-syndromic intellectual disability 31 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 31 [DO Concept]
Genes related to phenotype
- Purine-rich element-binding protein a [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- CNS hypomyelination [HPO term]
- Delayed myelination [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Myoclonus [HPO term]
- Myopathic facies [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Open mouth [HPO term]
- Prominent forehead [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [ORDO Disease]
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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