autosomal dominant mental retardation 48
ORPHA: 500159
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 48, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayMicrocephalyAtypical behaviorMotor stereotypySeizureMotor delayAbsent speechAbnormal heart morphologyPoor speechFeeding difficulties in infancyFloppy infantFeeding difficultiesCryptorchidismHypospadiasOpen mouthMacrocephalyAbnormal earlobe morphologyRecurrent otitis mediaSensorineural hearing impairmentProminent nasal bridgeAnteverted naresDiabetes mellitusEczematoid dermatitisCerebellar hypoplasiaPlagiocephalyJoint hypermobilityUmbilical herniaVentricular septal defectPatent ductus arteriosusBicuspid aortic valvePatent foramen ovaleAbnormal facial shapeHypoplasia of the corpus callosumVentriculomegalyPolymicrogyriaEnlarged cisterna magnaHypoplasia of the brainstemAbnormal periventricular white matter morphologyHighly arched eyebrowScoliosisTracheobronchomalaciaAcromesomeliaRecurrent pneumoniaCerebellar dysplasiaCongenital sensorineural hearing impairmentShort 5th fingerLow hanging columellaModerately reduced visual acuityAbnormal size of the palpebral fissures
Classification & Codes
Orphanet Code
ORPHA:500159autosomal dominant mental retardation 48
| Orphanet | ORPHA:500159 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO