Phenotypes associated with the disease neural tube defects, susceptibility to (OMIM:182940):
- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: IEA. (OMIM:182940)
- Anencephaly (HP:0002323): Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. Evidence: IEA. (OMIM:182940)
- Asymmetry of spinal facet joints (HP:0008482). Evidence: IEA. (OMIM:182940)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Onset: Congenital onset (HP:0003577). (OMIM:182940)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: IEA. Onset: Congenital onset (HP:0003577). (OMIM:182940)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: IEA. (OMIM:182940)
- Lipoma (HP:0012032): Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. Evidence: IEA. (OMIM:182940)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:182940)
- Absence of the sacrum (HP:0010305): Absence (aplasia) of the sacrum. Evidence: IEA. (OMIM:182940)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: IEA. (OMIM:182940)
- 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: TAS. (OMIM:182940)