neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
MONDO:0030999Mondo
Findings
No curated finding names neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 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
HPO, annotations 2026-09-02
Features
38 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.
- Cerebral atrophyHPOHP:0002059
- 8 of 8 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 11 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 10 of 10 reported patients
- Delayed ability to standHPOHP:0025335
- 10 of 11 reported patients
- Delayed ability to sitHPOHP:0025336
- 8 of 9 reported patients
- Corpus callosum atrophyHPOHP:0007371
- 7 of 8 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 7 of 8 reported patients
- Simplified gyral patternHPOHP:0009879
- 7 of 8 reported patients
- HypotoniaHPOHP:0001252
- 6 of 8 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 5 of 8 reported patients
- Absent speechHPOHP:0001344
- 6 of 11 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 11 reported patients
Show the remaining 26
- Tented upper lip vermilionHPOHP:0010804
- 4 of 8 reported patients
- Wide intermamillary distanceHPOHP:0006610
- 3 of 6 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 5 reported patients
- Low-set earsHPOHP:0000369
- 3 of 8 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 8 reported patients
- Broad eyebrowHPOHP:0011229
- 2 of 8 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.
- TTC5HGNC:19274
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- Also called
- NEDCAFD