Suleiman-El-Hattab syndrome
MONDO:0033532Mondo
Findings
No curated finding names Suleiman-El-Hattab 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
50 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.
- CryptorchidismHPOHP:0000028
- 3 of 3 reported patients · Male
- EpicanthusHPOHP:0000286
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Highly arched eyebrowHPOHP:0002553
- 4 of 4 reported patients
- HypertelorismHPOHP:0000316
- 4 of 4 reported patients
- Low-set earsHPOHP:0000369
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Periorbital fullnessHPOHP:0000629
- 4 of 4 reported patients
- Protruding earHPOHP:0000411
- 4 of 4 reported patients
- SynophrysHPOHP:0000664
- 4 of 4 reported patients
Show the remaining 38
- Thick eyebrowHPOHP:0000574
- 4 of 4 reported patients
- Wide nasal bridgeHPOHP:0000431
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 4 reported patients
- Frontal hirsutismHPOHP:0011335
- 3 of 4 reported patients
- Happy demeanorHPOHP:0040082
- 3 of 4 reported patients
- Long philtrumHPOHP:0000343
- 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.
- TASP1HGNC:15859
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of