autosomal dominant non-syndromic intellectual disability 36
ORPHA: 457284
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal dominant non-syndromic intellectual disability 36, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilitySeizureOpen mouthFacial hypotoniaHypertelorismHypotoniaGlobal developmental delayAgenesis of corpus callosumAbsent speechPlagiocephalyHypoplasia of the corpus callosumVentriculomegalyPoor speechScoliosisDelayed myelinationCerebral visual impairmentInguinal herniaUnilateral renal agenesisAplasia of the uterusHydrocephalusFacial asymmetryAnteverted naresAbnormality of the eyeOptic nerve hypoplasiaHyperactivityPectus excavatumJoint hypermobilityHip dysplasiaAplasia of the vaginaClinodactyly of the 5th fingerProminent metopic ridgeOlivopontocerebellar hypoplasiaBroad halluxAbnormal hair whorlGastrostomy tube feeding in infancyHypoplastic aortic archUpper eyelid entropionPostaxial polydactyly
Classification & Codes
Orphanet Code
ORPHA:457284autosomal dominant non-syndromic intellectual disability 36
| Orphanet | ORPHA:457284 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO