neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
MONDO:0859179Mondo
Findings
No curated finding names neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 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
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
43 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 gross motor developmentHPOHP:0002194
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Absent speechHPOHP:0001344
- 3 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 5 reported patients
- Sleep disturbanceHPOHP:0002360
- 3 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 4 reported patients
- Chronic constipationHPOHP:0012450
- 2 of 5 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 5 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 5 reported patients
- HypertelorismHPOHP:0000316
- 2 of 5 reported patients
Show the remaining 31
- Thin corpus callosumHPOHP:0033725
- 2 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 2 of 5 reported patients
- Atrioventricular canal defectHPOHP:0006695
- 1 of 5 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 5 reported patients
- Broad nasal tipHPOHP:0000455
- 1 of 5 reported patients
- Coarctation of aortaHPOHP:0001680
- 1 of 5 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.
- SUPT16HHGNC:11465
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2020