Tan-Almurshedi syndrome
MONDO:0957990Mondo
Findings
No curated finding names Tan-Almurshedi syndrome 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
HPO, annotations 2026-09-02
Features
25 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.
- BrachycephalyHPOHP:0000248
- 4 of 4 reported patients
- CamptodactylyHPOHP:0012385
- 4 of 4 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 4 of 4 reported patients
- Low-set earsHPOHP:0000369
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Neurodevelopmental delayHPOHP:0012758
- 4 of 4 reported patients
- Prominent foreheadHPOHP:0011220
- 4 of 4 reported patients
- Proportionate short statureHPOHP:0003508
- 4 of 4 reported patients
- Short palpebral fissureHPOHP:0012745
- 4 of 4 reported patients
- Underdeveloped supraorbital ridgesHPOHP:0009891
- 4 of 4 reported patients
Show the remaining 13
- Wide nasal bridgeHPOHP:0000431
- 4 of 4 reported patients
- Widely spaced teethHPOHP:0000687
- 4 of 4 reported patients
- Dry skinHPOHP:0000958
- 3 of 4 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 3 of 4 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 3 of 4 reported patients
- Short eyelashesHPOHP:0010764
- 3 of 4 reported patients
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.
- DRG1HGNC:3029
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of