neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
MONDO:0980965Mondo
Findings
No curated finding names neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
135 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Anteriorly placed anusHPOHP:0001545
- 1 of 1 reported patient
- Anteverted earsHPOHP:0040080
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 2 of 2 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 1 reported patient
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Clubbing of toesHPOHP:0100760
- 1 of 1 reported patient
- ColobomaHPOHP:0000589
- 1 of 1 reported patient
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
Show the remaining 123
- Delayed fine motor developmentHPOHP:0010862
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Duane anomalyHPOHP:0009921
- 1 of 1 reported patient
- ExotropiaHPOHP:0000577
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients