global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
MONDO:0014994Mondo
Findings
No curated finding names global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 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.
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- EpicanthusHPOHP:0000286
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 3 of 4 reported patients · Neonatal onset
- Short statureHPOHP:0004322
- 3 of 4 reported patients
- Renal cystHPOHP:0000107
- 2 of 3 reported patients
- Renal dysplasiaHPOHP:0000110
- 2 of 3 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 4 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 4 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 2 of 4 reported patients
Show the remaining 29
- Pointed chinHPOHP:0000307
- 2 of 4 reported patients
- Talipes equinovarusHPOHP:0001762
- 2 of 4 reported patients
- Triangular faceHPOHP:0000325
- 2 of 4 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 2 of 4 reported patients
- Coarctation of aortaHPOHP:0001680
- 1 of 4 reported patients
- Coarse facial featuresHPOHP:0000280
- 1 of 4 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.
- ZNF148HGNC:12933
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- Also called
- GDACCFglobal developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF