intellectual disability, autosomal recessive 53
ORPHA: 488635
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 intellectual disability, autosomal recessive 53, sourced from HPO and Orphanet clinical annotations.
SeizureHypotoniaSevere global developmental delayDelayed speech and language developmentHyporeflexiaCerebellar hypoplasiaJoint hypermobilityGrowth delayAbnormal facial shapeGait ataxiaHypoplasia of the corpus callosumGait imbalanceAbnormal lateral ventricle morphologyDelayed ability to walkThin upper lip vermilionHypertelorismWide noseHypermetropiaAutistic behaviorHyperextensibility of the finger jointsCerebellar atrophyAbsent speechIntrauterine growth retardationPes planusBilateral tonic-clonic seizureDrowsinessMuscle spasmDepressed nasal bridgeSevere demyelination of the white matterPes valgusHypermobility of toe jointsEEG with focal spikesFeeding difficulties
Classification & Codes
Orphanet Code
ORPHA:488635intellectual disability, autosomal recessive 53
| Orphanet | ORPHA:488635 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO