Cleft palate, proliferative retinopathy, and developmental delay

Preferred Label : Cleft palate, proliferative retinopathy, and developmental delay;

Symbol : CPPRDD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619074;

Details

Origin ID

619074;

UMLS CUI

C5436739;

Genes related to phenotype
- Leucine-rich repeat-containing protein 32 [OMIM gene]
HPO term(s)
- Atopic dermatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cavum septum pellucidum [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cleft palate [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Intrauterine growth retardation [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Myopia [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Retinal neovascularization [HPO term]
- Short philtrum [HPO term]
- Sleep apnea [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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