Phenotypes associated with the disease Weismann-Netter syndrome (OMIM:112350):
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 2/2. (PMID:21274295)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. (OMIM:112350)
- Small sella turcica (HP:0010538): An abnormally small sella turcica. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:112350)
- Horizontal sacrum (HP:0003440). Evidence: TAS. (OMIM:112350)
- Squared iliac bones (HP:0003177): A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. Evidence: IEA. (OMIM:112350)
- Calvarial hyperostosis (HP:0004490): Excessive growth of the calvaria. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:112350)
- Fibular bowing (HP:0010502): A bending or abnormal curvature of the fibula. Evidence: PCS. Frequency: 2/2. (PMID:21274295)
- Lateral femoral bowing (HP:0005090): A lateral bending or abnormal curvature of the femur. Evidence: PCS. Frequency: 2/2. (PMID:21274295)
- Anterior tibial bowing (HP:0006390): An abnormal anterior bending or curvature of the tibia. Evidence: PCS. Frequency: 2/2. (PMID:21274295)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. (OMIM:112350)
- Delayed eruption of permanent teeth (HP:0000696): Delayed tooth eruption affecting the secondary dentition. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:112350)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:112350)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:112350)