CEBALID syndrome
MONDO:0032908Mondo
Findings
No curated finding names CEBALID syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
36 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.
- Abnormal pinna morphologyHPOHP:0000377
- 22 of 22 reported patients
- Abnormal speech patternHPOHP:0002167
- 3 of 3 reported patients
- Flat faceHPOHP:0012368
- 3 of 3 reported patients
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- PolyphagiaHPOHP:0002591
- 3 of 3 reported patients · Infantile onset
- Severe global developmental delayHPOHP:0011344
- 3 of 3 reported patients · Infantile onset
- Short noseHPOHP:0003196
- 3 of 3 reported patients
- Thick eyebrowHPOHP:0000574
- 3 of 3 reported patients
- Anteverted naresHPOHP:0000463
- 24 of 25 reported patients
- Midface retrusionHPOHP:0011800
- 21 of 22 reported patients
- Motor delayHPOHP:0001270
- 19 of 20 reported patients
- Intellectual disabilityHPOHP:0001249
- 16 of 17 reported patients
Show the remaining 24
- DolichocephalyHPOHP:0000268
- 12 of 13 reported patients
- HypertelorismHPOHP:0000316
- 22 of 24 reported patients
- Generalized hypotoniaHPOHP:0001290
- 19 of 21 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 18 of 20 reported patients
- Hearing impairmentHPOHP:0000365
- 16 of 20 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 15 of 21 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.
- MN1HGNC:7180
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: CEBALID syndrome
- Also called
- MCTTMN1 C-Terminal Truncation Syndrome