microcephaly-congenital cataract-psoriasiform dermatitis syndrome
MONDO:0014793Mondo
Findings
No curated finding names microcephaly-congenital cataract-psoriasiform dermatitis 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
- Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- BlepharitisHPOHP:0000498
- 1 of 1 reported patient
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 1 of 1 reported patient
- Decreased circulating LDL-C concentrationHPOHP:0003563
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Developmental cataractHPOHP:0000519
- 1 of 1 reported patient
- Elevated circulating dimethyl sterol concentrationHPOHP:6000754
- 1 of 1 reported patient
- Elevated circulating monomethyl sterol concentrationHPOHP:6000753
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypocholesterolemiaHPOHP:0003146
- 1 of 1 reported patient
- IchthyosisHPOHP:0008064
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
Show the remaining 2
- Psoriasiform dermatitisHPOHP:0003765
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
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.
- MSMO1HGNC:10545
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: microcephaly-congenital cataract-psoriasiform dermatitis syndrome
- Also called
- MCCPDmicrocephaly, congenital cataract, and psoriasiform dermatitissmo deficiencysterol-C4-methyl oxidase deficiency