developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies
MONDO:0980727Mondo
Findings
No curated finding names developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies 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
102 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.
- Anal atresiaHPOHP:0002023
- 1 of 1 reported patient
- Anal fistulaHPOHP:0010447
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Autoimmune thrombocytopeniaHPOHP:0001973
- 1 of 1 reported patient
- Brain abscessHPOHP:0030049
- 1 of 1 reported patient
- Broad thumbHPOHP:0011304
- 2 of 2 reported patients
- CholecystitisHPOHP:0001082
- 1 of 1 reported patient
- CholelithiasisHPOHP:0001081
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
Show the remaining 90
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Duplicated collecting systemHPOHP:0000081
- 1 of 1 reported patient
- Ectopic kidneyHPOHP:0000086
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- 2 of 2 reported patients
Where it sits
- A kind of