infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Findings
No curated finding names infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
Definition from the Mondo Disease Ontology (MONDO:0013351), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
15 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.
- ClonusHPOHP:0002169
- 5 of 5 reported patients
- Decreased thalamic volumeHPOHP:0012695
- 5 of 5 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 5 of 5 reported patients
- Diffuse cerebral atrophyHPOHP:0002506
- 5 of 5 reported patients
- DysphagiaHPOHP:0002015
- 5 of 5 reported patients
- Failure to thriveHPOHP:0001508
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.
- MED17HGNC:2375
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021