Phenotypes associated with the disease Disorganization, mouse, homolog of (OMIM:223200):
- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: IEA. (OMIM:223200)
- Sacral lipoma (HP:0012033): Presence of a lipoma in the region of the sacrum. Evidence: TAS. (OMIM:223200)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. (OMIM:223200)
- Sacral meningocele (HP:0005765). Evidence: IEA. (OMIM:223200)
- Limb duplication (HP:0100524): Congenital duplication of all or part of a limb. Evidence: TAS. (OMIM:223200)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:223200)
- Hand polydactyly (HP:0001161): A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. Evidence: IEA. (OMIM:223200)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. (OMIM:223200)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:223200)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. (OMIM:223200)
- Abdominal organ duplication (HP:0005217): A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen. Evidence: IEA. (OMIM:223200)