Carey-Fineman-Ziter syndrome 2
MONDO:0100292Mondo
Findings
No curated finding names Carey-Fineman-Ziter syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene.
Definition from the Mondo Disease Ontology (MONDO:0100292), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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.
- Abnormal skeletal muscle morphologyHPOHP:0011805
- 2 of 2 reported patients
- Dental crowdingHPOHP:0000678
- 2 of 2 reported patients
- Downturned corners of mouthHPOHP:0002714
- 2 of 2 reported patients
- High, narrow palateHPOHP:0002705
- 2 of 2 reported patients
- Hooded upper eyelidHPOHP:0030822
- 2 of 2 reported patients
- Hypomimic faceHPOHP:0000338
- 2 of 2 reported patients
- Increased overbiteHPOHP:0011094
Show the remaining 13
- Protruding earHPOHP:0000411
- 2 of 2 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 2 of 2 reported patients
- Underdeveloped nasal alaeHPOHP:0000430
- 2 of 2 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 2 of 2 reported patients
- Abnormal nasal septum morphologyHPOHP:0000419
- 1 of 2 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: Carey-Fineman-Ziter syndrome 2
- Also called
- CFZS2