congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
MONDO:0014258Mondo
Findings
No curated finding names congenital microcephaly - severe encephalopathy - progressive cerebral atrophy 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
- Congenital onset · Infantile onset · Neonatal onset · Third trimester onset
HPO, annotations 2026-09-02
Features
47 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.
- BlindnessHPOHP:0000618
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Clonic seizureHPOHP:0020221
- 1 of 1 reported patient
- Diaphragmatic eventrationHPOHP:0009110
- 2 of 2 reported patients
- Dilated fourth ventricleHPOHP:0002198
- 1 of 1 reported patient
- Dilated third ventricleHPOHP:0007082
- 1 of 1 reported patient
- EsodeviationHPOHP:0020045
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
Show the remaining 35
- Global brain atrophyHPOHP:0002283
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 3 of 3 reported patients
- HypoasparaginemiaHPOHP:0500157
- 1 of 1 reported patient
- Hypoplasia of the brainstemHPOHP:0002365
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 2 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.
- ASNSHGNC:753
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2020
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- Also called
- asparagine synthetase deficiency