alopecia - intellectual disability syndrome
Findings
No curated finding names alopecia - intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
Definition from the Mondo Disease Ontology (MONDO:0008756), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Microcephaly
Show the remaining 14
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Hypergonadotropic hypogonadismHPOHP:0000815
- Frequent (30% to 79% of cases)
- IchthyosisHPOHP:0008064
- Frequent (30% to 79% of cases)
- PhotophobiaHPOHP:0000613
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Short corpus callosumHPOHP:0200012
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: alopecia - intellectual disability syndrome
- Also called
- alopecia-intellectual disability syndromePerniola-Krajewska-Carnevale syndrome