Skin creases, congenital symmetric circumferential, 2

Preferred Label : Skin creases, congenital symmetric circumferential, 2;

Symbol : CSCSC2;

CISMeF acronym : CSCSC2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microtubule-associated protein, RP/EB family, member-2 gene (MAPRE2, 605789.0001);

Prefixed ID : #616734;

Details

Origin ID

616734;

UMLS CUI

C4225225;

Genes related to phenotype
- Microtubule-associated protein, rp/eb family, member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Broad neck [HPO term]
- Carious teeth [HPO term]
- Cleft palate [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long fingers [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Motor delay [HPO term]
- Narrow mouth [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Posteriorly rotated ears [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short palm [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Small scrotum [HPO term]
- Tapered finger [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Multiple benign circumferential skin creases on limbs [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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