Hengel-Maroofian-Schols syndrome
MONDO:0859208Mondo
Findings
No curated finding names Hengel-Maroofian-Schols 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
- Infantile onset
HPO, annotations 2026-09-02
Features
37 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.
- Delayed gross motor developmentHPOHP:0002194
- 15 of 15 reported patients
- Global developmental delayHPOHP:0001263
- 15 of 15 reported patients
- HyperreflexiaHPOHP:0001347
- 15 of 15 reported patients
- Open mouthHPOHP:0000194
- 15 of 15 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 14 of 14 reported patients
- Thick vermilion borderHPOHP:0012471
- 15 of 15 reported patients
- Thin corpus callosumHPOHP:0033725
- 13 of 13 reported patients
- Upper motor neuron dysfunctionHPOHP:0002493
- 15 of 15 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 14 of 15 reported patients
- Abnormal CNS myelinationHPOHP:0011400
- 12 of 13 reported patients
- Long faceHPOHP:0000276
- 13 of 15 reported patients
- SpasticityHPOHP:0001257
- 13 of 15 reported patients
Show the remaining 25
- MicrocephalyHPOHP:0000252
- 11 of 13 reported patients
- Short statureHPOHP:0004322
- 11 of 14 reported patients
- Short philtrumHPOHP:0000322
- 8 of 11 reported patients
- StrabismusHPOHP:0000486
- 10 of 15 reported patients
- SynophrysHPOHP:0000664
- 10 of 15 reported patients
- Thick eyebrowHPOHP:0000574
- 10 of 15 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.
- BCAS3HGNC:14347
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of