Al kaissi syndrome

Preferred Label : Al kaissi syndrome;

Symbol : ALKAS;

CISMeF acronym : ALKAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Growth retardation, spine malformation, dysmorphic facies, and developmental delay;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cyclin-dependent kinase 10 gene (CDK10, 603464.0001);

Prefixed ID : #617694;

Details

Origin ID

617694;

UMLS CUI

C4540156;

Genes related to phenotype
- Cyclin-dependent kinase 10 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad nasal tip [HPO term]
- Broad-based gait [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Decreased body weight [HPO term]
- Decreased head circumference [HPO term]
- Deep palmar crease [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemivertebrae [HPO term]
- High, narrow palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrodontia [HPO term]
- Malar rash [HPO term]
- Microcephaly [HPO term]
- Nevus flammeus of the forehead [HPO term]
- Pes planus [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Torticollis [HPO term]
- Triangular face [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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