Nabais sa-de vries syndrome, type 2

Preferred Label : Nabais sa-de vries syndrome, type 2;

Symbol : NSDVS2;

CISMeF acronym : NSDVS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies; NEDMACE;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the speckle-type BTB/POZ protein gene (SPOP, 602650.0004);

Prefixed ID : #618829;

Details

Origin ID

618829;

UMLS CUI

C5394221;

Genes related to phenotype
- Speckle-type btb/poz protein [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Bulbous nose [HPO term]
- Chorea [HPO term]
- Chronic constipation [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Dystonia [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Hemiparesis [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic left heart [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Large forehead [HPO term]
- Long palpebral fissure [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Migraine [HPO term]
- Motor delay [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Neonatal hypotonia [HPO term]
- Pointed chin [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nose [HPO term]
- Protruding ear [HPO term]
- Seizure [HPO term]
- Sleep apnea [HPO term]
- Sparse eyebrow [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Thin vermilion border [HPO term]
- Triangular face [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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