microcephalic primordial dwarfism due to ZNF335 deficiency
Findings
No curated finding names microcephalic primordial dwarfism due to ZNF335 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.
Definition from the Mondo Disease Ontology (MONDO:0014043), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
28 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.
- Primary microcephalyHPOHP:0011451
- 9 of 9 reported patients · Congenital onset
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Abnormal cerebellum morphologyHPOHP:0001317
- Very frequent (80% to 99% of cases)
- Abnormal cerebral cortex morphologyHPOHP:0002538
- Very frequent (80% to 99% of cases)
- Abnormal cerebral morphologyHPOHP:0002060
- Very frequent (80% to 99% of cases)
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.
- ZNF335HGNC:15807
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: microcephalic primordial dwarfism due to ZNF335 deficiency
- Also called
- microcephalic primordial dwarfism, Walsh type