Chudley-McCullough syndrome
MONDO:0011411Mondo
Findings
No curated finding names Chudley-McCullough syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Congenital sensorineural hearing impairmentHPOHP:0008527
- Obligate (100% of cases)
- Gray matter heterotopiaHPOHP:0002282
- 9 of 9 reported patients
- Occasional (5% to 29% of cases)
- Partial agenesis of the corpus callosumHPOHP:0001338
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- PolymicrogyriaHPOHP:0002126
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Severe sensorineural hearing impairmentHPOHP:0008625
- 12 of 12 reported patients · Childhood onset
- VentriculomegalyHPOHP:0002119
- 12 of 12 reported patients
- Frequent (30% to 79% of cases)
- Arachnoid cystHPOHP:0100702
- 8 of 9 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar dysplasiaHPOHP:0007033
- 8 of 9 reported patients
- Occasional (5% to 29% of cases)
- ColpocephalyHPOHP:0030048
- Very frequent (80% to 99% of cases)
- Profound sensorineural hearing impairmentHPOHP:0011476
- Very frequent (80% to 99% of cases)
- Cortical dysplasiaHPOHP:0002539
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- 7 of 12 reported patients
Show the remaining 8
- Mild intellectual disabilityHPOHP:0001256
- 5 of 12 reported patients
- Motor delayHPOHP:0001270
- 5 of 12 reported patients
- Slit-like lateral ventricleHPOHP:6000989
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- 2 of 12 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- Dysplastic corpus callosumHPOHP:0006989
- Hypoplasia of the corpus callosumHPOHP:0002079
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.
- GPSM2HGNC:29501
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021