Neurodevelopmental disorder with speech impairment and dysmorphic facies

Preferred Label : Neurodevelopmental disorder with speech impairment and dysmorphic facies;

Symbol : NEDSID;

Type : Phenotype, molecular basis known;

Prefixed ID : #619056;

Details

Origin ID

619056;

UMLS CUI

C5436699;

Genes related to phenotype
- Set domain-containing protein 1a [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Chronic constipation [HPO term]
- Craniosynostosis [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Everted upper lip vermilion [HPO term]
- Feeding difficulties [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microtia [HPO term]
- Motor delay [HPO term]
- Obesity [HPO term]
- Oligohydramnios [HPO term]
- Recurrent infections [HPO term]
- Schizophrenia [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
- Short stature [HPO term]
- Sleep disturbance [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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