neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
MONDO:0979245Mondo
Findings
No curated finding names neurodevelopmental disorder with behavioral, ear, and skeletal 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
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
133 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.
- AmblyopiaHPOHP:0000646
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Bilateral coxa valgaHPOHP:0010665
- 1 of 1 reported patient
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Camptodactyly of fingerHPOHP:0100490
- 1 of 1 reported patient
- Central sleep apneaHPOHP:0010536
- 1 of 1 reported patient
- Cerebral palsyHPOHP:0100021
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Congenital encephalopathyHPOHP:0007239
- 1 of 1 reported patient
- CoughHPOHP:0012735
- 1 of 1 reported patient
- Cutis marmorataHPOHP:0000965
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
Show the remaining 121
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Easy fatigabilityHPOHP:0003388
- 1 of 1 reported patient
- EcholaliaHPOHP:0010529
- 1 of 1 reported patient
- Eosinophilic infiltration of the esophagus