Nabais sa-de vries syndrome, type 1

Preferred Label : Nabais sa-de vries syndrome, type 1;

Symbol : NSDVS1;

CISMeF acronym : NSDVS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodevelopmental disorder with microcephaly and dysmorphic facies; NEDMIDF;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the speckle-type BTB/POZ protein gene (SPOP, 602650.0002);

Prefixed ID : #618828;

Details

Origin ID

618828;

UMLS CUI

C5394218;

Genes related to phenotype
- Speckle-type btb/poz protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Bulbous nose [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]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertonia [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Low anterior hairline [HPO term]
- Motor delay [HPO term]
- Narrow forehead [HPO term]
- Narrow palpebral fissure [HPO term]
- Neonatal respiratory distress [HPO term]
- Optic nerve hypoplasia [HPO term]
- Pointed chin [HPO term]
- Primary microcephaly [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Prominent glabella [HPO term]
- Prominent nasal bridge [HPO term]
- Sacral dimple [HPO term]
- Self-injurious behavior [HPO term]
- Short nose [HPO term]
- Simplified gyral pattern [HPO term]
- Smooth philtrum [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Thickened helices [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Vesicoureteral reflux [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients