alopecia-intellectual disability syndrome

ORPHA: 2850

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

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 alopecia-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyHearing impairmentIntellectual disabilityHypotoniaAlopeciaSparse scalp hairSparse body hairDelayed skeletal maturationAplasia/Hypoplasia of the eyebrowPhotophobiaHypergonadotropic hypogonadismBrachydactylySplit handSeizureGrowth delayEEG abnormalityShort statureIchthyosisSparse hairAbnormal skeletal morphologyShort corpus callosumMacrotiaHyperkeratosisFlexion contractureScoliosisAbnormal nasal morphology

Classification & Codes

Orphanet Code

ORPHA:2850

alopecia-intellectual disability syndrome

Orphanet	`ORPHA:2850`
Treatments	0 drug(s)
Symptoms on record	26 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO