multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
MONDO:0009359Mondo
Findings
No curated finding names multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 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
- Neonatal death · Stillbirth
HPO, annotations 2026-09-02
Features
25 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 12 of 12 reported patients
- BrachydactylyHPOHP:0001156
- 3 of 3 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 8 of 8 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 3 of 3 reported patients
- Cutaneous syndactylyHPOHP:0012725
- 7 of 7 reported patients · Congenital onset
- Cystic hygromaHPOHP:0000476
- 3 of 3 reported patients · Antenatal onset
- HydranencephalyHPOHP:0002324
- 12 of 12 reported patients · Congenital onset
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients · Congenital onset
- MicroretrognathiaHPOHP:0000308
- 3 of 3 reported patients
- Multinucleated neuronHPOHP:4000150
- 3 of 3 reported patients
- OligohydramniosHPOHP:0001562
- 11 of 11 reported patients · Antenatal onset
- Pulmonary hypoplasiaHPOHP:0002089
- 11 of 11 reported patients · Congenital onset
Show the remaining 13
- Redundant neck skinHPOHP:0005989
- 5 of 5 reported patients
- Renal dysplasiaHPOHP:0000110
- 11 of 11 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 3 of 3 reported patients · Congenital onset
- Talipes equinovarusHPOHP:0001762
- 3 of 3 reported patients
- Ureteral agenesisHPOHP:0012300
- 11 of 11 reported patients · Congenital onset
- Anteverted naresHPOHP:0000463
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.
- CEP55HGNC:1161
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
- Also called
- hydranencephaly with renal aplasia-dysplasiaMARCH syndrome