Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features

Preferred Label : Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features;

Symbol : NEDHILD;

CISMeF acronym : MRD40;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 40; Intellectual developmental disorder, autosomal dominant 40; MRD40;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chromosome alignment-maintaining phosphoprotein 1 gene (CHAMP1, 616327.0001);

Prefixed ID : #616579;

Details

Origin ID

616579;

UMLS CUI

C5676894;

Currated CISMeF NLP mapping
- Mental Retardation, Autosomal Dominant 40 [NCIt concept]
- autosomal dominant non-syndromic intellectual disability 40 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 40 [DO Concept]
Genes related to phenotype
- Chromosome alignment-maintaining phosphoprotein 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Facial hypotonia [HPO term]
- Feeding difficulties [HPO term]
- Gait ataxia [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypermetropia [HPO term]
- Hypotonia [HPO term]
- Impaired pain sensation [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Open mouth [HPO term]
- Pointed chin [HPO term]
- Recurrent respiratory infections [HPO term]
- Short philtrum [HPO term]
- Strabismus [HPO term]
- Tented upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, Autosomal Dominant 40 [NCIt concept]

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