alopecia-intellectual disability syndrome 4
MONDO:0030009Mondo
Findings
No curated finding names alopecia-intellectual disability syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
14 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
- 11 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 11 of 11 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 11 reported patients
- SeizureHPOHP:0001250
- 7 of 11 reported patients · Neonatal onset
- HypospadiasHPOHP:0000047
- 2 of 6 reported patients · Male
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 11 reported patients
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 6 reported patients
- MicropenisHPOHP:0000054
- 1 of 6 reported patients
- AgitationHPOHP:0000713
- 1 of 11 reported patients
- Autistic behaviorHPOHP:0000729
- Delayed ability to walkHPOHP:0031936
Show the remaining 2
- ErythrodermaHPOHP:0001019
- IchthyosisHPOHP:0008064
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LSSHGNC:6708
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: alopecia-intellectual disability syndrome 4
- Also called
- ALOPECIA-MENTAL RETARDATION SYNDROME 4APMR4