Desanto-shinawi syndrome

Preferred Label : Desanto-shinawi syndrome;

Symbol : DESSH;

CISMeF acronym : DESSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities;

Included titles and symbols : Chromosome 10p12-p11 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the WW domain-containing adaptor with coiled-coil region gene (WAC, 615049.0001);

Prefixed ID : #616708;

Détails

Origin ID

616708;

UMLS CUI

C4225239;

Automatic exact mappings (from CISMeF team)
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation [ORDO Disease]
- WAC wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Ww domain-containing adaptor with coiled-coil region [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Anxiety [HPO term]
- Astigmatism [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Bulbous nose [HPO term]
- Coarse facial features [HPO term]
- Constipation [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Feeding difficulties [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hirsutism [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Inverted nipples [HPO term]
- Midface retrusion [HPO term]
- Myopia [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Sleep disturbance [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion [ORDO Disease]
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation [ORDO Disease]
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) [SNOMED CT concept]

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