Phenotypes associated with the disease neural tube defects, folate-sensitive (OMIM:601634):
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:601634)
- Spinal dysraphism (HP:0010301): A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. Evidence: TAS. (OMIM:601634)
- 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: TAS. (OMIM:601634)