neurodegeneration, childhood-onset, with progressive microcephaly
MONDO:0859241Mondo
Findings
No curated finding names neurodegeneration, childhood-onset, with progressive microcephaly 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 · Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
40 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Primary microcephalyHPOHP:0011451
- 2 of 2 reported patients
- Widened subarachnoid spaceHPOHP:0012704
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 3 of 4 reported patients
- Babinski signHPOHP:0003487
- 1 of 2 reported patients
- Breech presentationHPOHP:0001623
- 1 of 2 reported patients
- Cerebral palsyHPOHP:0100021
- 1 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 2 reported patients
- ClonusHPOHP:0002169
- 1 of 2 reported patients
Show the remaining 28
- CryptorchidismHPOHP:0000028
- 2 of 4 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 2 reported patients
- DysphagiaHPOHP:0002015
- 1 of 2 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- Full cheeksHPOHP:0000293
- 1 of 2 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.
- DTYMKHGNC:3061
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of