Cleft palate, psychomotor retardation, and distinctive facial features

Preferred Label : Cleft palate, psychomotor retardation, and distinctive facial features;

Symbol : CPRF;

CISMeF acronym : CPRF;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Lysine-specific demethylase 1A gene (KDM1A, 609132.0001);

Prefixed ID : #616728;

Details

Origin ID

616728;

UMLS CUI

C4225229;

Automatic exact mappings (from CISMeF team)
- KDM1A wt Allele [NCIt concept]
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [ORDO Disease]
Genes related to phenotype
- Lysine demethylase 1a [OMIM gene]
HPO term(s)
- Abnormal vertebral morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Cerebral white matter hypoplasia [HPO term]
- Chordee [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Exotropia [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic toenails [HPO term]
- Joint hypermobility [HPO term]
- Lower limb hypertonia [HPO term]
- Macrocephaly [HPO term]
- Motor delay [HPO term]
- Oculomotor apraxia [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Synophrys [HPO term]
- Syringomyelia [HPO term]
- Tapered finger [HPO term]
- Tethered cord [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [ORDO Disease]
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