Phenotypes associated with the disease holoprosencephaly-craniosynostosis syndrome (OMIM:601370):
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: IEA. (OMIM:601370)
- Lambdoidal craniosynostosis (HP:0004443): A kind of craniosynostosis affecting the lambdoidal suture. Evidence: IEA. (OMIM:601370)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: IEA. (OMIM:601370)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: PCS. (OMIM:601370)
- Semilobar holoprosencephaly (HP:0002507): A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. Evidence: IEA. (OMIM:601370)
- 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:601370)
- Hypoplastic vertebral bodies (HP:0008479). Evidence: IEA. (OMIM:601370)