Clinical Signs and Symptoms
ORPHA:96179 Maternal uniparental disomy of chromosome 2
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of the amniotic fluid HP:0001560
- Intrauterine growth retardation HP:0001511
- Postnatal growth retardation HP:0008897
Very frequent
- Abnormality of the ankles HP:0003028
- Contractures of the large joints HP:0005781
- Elevated amniotic fluid alpha-fetoprotein HP:0004639
- Hypothyroidism HP:0000821
- Neonatal respiratory distress HP:0002643
- Oligohydramnios HP:0001562
Frequent
- Bilateral cryptorchidism HP:0008689
- C1-C2 vertebral abnormality HP:0008440
- Chordee HP:0000041
- Clinodactyly of the 5th finger HP:0004209
- Growth hormone deficiency HP:0000824
- Hypospadias HP:0000047
- Immunodeficiency HP:0002721
- Pes planus HP:0001763
- Preaxial hand polydactyly HP:0001177
- Premature birth HP:0001622
- Primary ovarian failure HP:0001587
- Pulmonary hypoplasia HP:0002089
- Renal dysplasia HP:0000110
- Renal insufficiency HP:0000083
- Respiratory infections in early life HP:0004880
- Retinal degeneration HP:0000546
- Skeletal dysplasia HP:0002652
- Spontaneous abortion HP:0005268
Occasional
- Global developmental delay HP:0001263
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.