neurodevelopmental disorder with hypotonia and dysmorphic facies
MONDO:0859185Mondo
Findings
No curated finding names neurodevelopmental disorder with hypotonia 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 · Typically de novo
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
151 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.
- Agenesis of permanent teethHPOHP:0006349
- 1 of 1 reported patient
- ArthralgiaHPOHP:0002829
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 1 of 1 reported patient · Fetal onset
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Cutis laxaHPOHP:0000973
- 1 of 1 reported patient
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient · Fetal onset
- 2 of 12 reported patients
- Dental crowdingHPOHP:0000678
- 1 of 1 reported patient
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- ExotropiaHPOHP:0000577
- 1 of 1 reported patient
Show the remaining 139
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Hip contractureHPOHP:0003273
- 1 of 1 reported patient
- Hyperextensibility of the finger jointsHPOHP:0001187
- 1 of 1 reported patient
- HyperlordosisHPOHP:0003307
- 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.
- GNB2HGNC:4398
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025