van Maldergem syndrome 2
MONDO:0014242Mondo
Findings
No curated finding names van Maldergem syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014242), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
28 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.
- Anteriorly placed anusHPOHP:0001545
- 1 of 1 reported patient
- Bifid scrotumHPOHP:0000048
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Cutaneous finger syndactylyHPOHP:0010554
- 1 of 1 reported patient
- Cutaneous syndactyly of toesHPOHP:0010621
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
Show the remaining 16
- Hip subluxationHPOHP:0030043
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Hypoplastic nipplesHPOHP:0002557
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- MicropenisHPOHP:0000054
- 1 of 1 reported patient
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.
- FAT4HGNC:23109
- Definitive · G2P · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
3 names
Resolves to: van Maldergem syndrome 2
- Also called
- FAT4 van Maldergem syndromevan Maldergem syndrome caused by mutation in FAT4Van Maldergem syndrome type 2