Alpha-thalassemia mental retardation syndrome
MeSH: C538258ORPHA: 847
Overview
alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21
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 Alpha-thalassemia mental retardation syndrome, sourced from HPO and Orphanet clinical annotations.
Optic atrophyDepressionOsteoporosisBrachydactylyHypotoniaSpastic paraplegiaAgenesis of corpus callosumFlexion contractureJoint stiffnessGrowth delayAbnormal heart morphologyAnemiaNausea and vomitingConstipationCerebral cortical atrophyAganglionic megacolonInfectious encephalitisVolvulusScoliosisClinodactyly of the 5th fingerFeeding difficulties in infancyAbnormality of movementSelf-injurious behaviorCryptorchidismMale pseudohermaphroditismAmbiguous genitaliaMicrocephalyAbnormality of the faceHypertelorismAtypical behaviorIntellectual disabilityGastroesophageal refluxAphasiaAbnormality of the male genitaliaAbnormal fontanelle morphologyFlat faceProfound global developmental delayMacroglossiaThick lower lip vermilionEverted lower lip vermilionEpicanthusDepressed nasal ridgeAnteverted naresVisual impairmentTelecanthusAutismSeizureMotor delayTalipes equinovarusDroolingSleep disturbanceKyphosisShort statureHypoplasia of penisTented upper lip vermilionU-Shaped upper lip vermilionMidface retrusionAbnormal hemoglobinRecurrent urinary tract infectionsAbnormality of the kidneyHydronephrosisAbnormality of the dentitionSensorineural hearing impairmentMyopiaBlindness
Classification & Codes
MeSH Code
C538258Orphanet Code
ORPHA:847Alpha-thalassemia mental retardation syndrome
| MeSH | C538258 |
| Orphanet | ORPHA:847 |
| Treatments | 0 drug(s) |
| Symptoms on record | 65 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO