X-linked intellectual disability, van Esch type
ORPHA: 163976
Overview
X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism
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 X-linked intellectual disability, van Esch type, sourced from HPO and Orphanet clinical annotations.
Male hypogonadismCryptorchidismMicrocephalyRetrognathiaHypergonadotropic hypogonadismIncreased circulating gonadotropin levelDelayed skeletal maturationClinodactyly of the 5th fingerMild intellectual disabilityFailure to thriveShort statureIntrauterine growth retardationType II diabetes mellitusAttention deficit hyperactivity disorderAbsence of secondary sex characteristicsMicrotiaDecreased testicular sizeCoronal craniosynostosisRetractile testisDecreased serum testosterone concentrationReduced social responsiveness
Classification & Codes
Orphanet Code
ORPHA:163976X-linked intellectual disability, van Esch type
| Orphanet | ORPHA:163976 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO