Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

Preferred Label : Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities;

Symbol : DEHMBA;

Type : Phenotype, molecular basis known;

Prefixed ID : #619595;

Details

Origin ID

619595;

UMLS CUI

C5562012;

Genes related to phenotype
- Snf2-related cbp activator protein [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Gastroesophageal reflux [HPO term]
- Hypermetropia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Myopia [HPO term]
- Narrow palpebral fissure [HPO term]
- Periorbital fullness [HPO term]
- Prominent forehead [HPO term]
- Protruding ear [HPO term]
- Psychosis [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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