autosomal dominant mental retardation 47
ORPHA: 502434
Overview
human disease
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 mental retardation 47, sourced from HPO and Orphanet clinical annotations.
Deeply set eyeIntellectual disabilityGlobal developmental delayCryptorchidismWide mouthProminent nasal bridgeAutistic behaviorSeizureGastroesophageal refluxFeeding difficultiesThin eyebrowHypoplastic male external genitaliaHorseshoe kidneyOrofacial cleftHigh palateMicrocephalyMicrognathiaLow-set earsStrabismusLong eyelashesSynophrysSingle transverse palmar creaseCutis marmorataHypotoniaLimited elbow extensionJoint hypermobilityFailure to thriveIntrauterine growth retardationWidely-spaced maxillary central incisorsAbnormal facial shapeScoliosisAbnormality of the upper limbClinodactyly of the 5th fingerShort stature2-3 toe syndactylySevere intellectual disabilityBrain atrophyEpileptic encephalopathy
Classification & Codes
Orphanet Code
ORPHA:502434autosomal dominant mental retardation 47
| Orphanet | ORPHA:502434 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO