neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities
MONDO:0975874Mondo
Findings
No curated finding names neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
47 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.
- Adducted thumbHPOHP:0001181
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 3 of 3 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- CNS hypomyelinationHPOHP:0003429
- 3 of 3 reported patients
- Congenital posterior urethral valveHPOHP:0010957
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Delayed ability to walk with supportHPOHP:0033257
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Distal arthrogryposisHPOHP:0005684
- 1 of 1 reported patient
Show the remaining 35
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
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.
- HGNC:48626HGNC:48626
- Strong · PanelApp Australia · Autosomal dominant · 2025