Phenotypes associated with the disease white forelock with malformations (OMIM:277740):
- White forelock (HP:0002211): A triangular depigmented region of white hairs located in the anterior midline of the scalp. Evidence: IEA. (OMIM:277740)
- Bronchomalacia (HP:0002780): Weakness or softness of the cartilage in the walls of the bronchial tubes. Evidence: TAS. (OMIM:277740)
- Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185): Absence or underdevelopment of the distal phalanges of the toes. Evidence: IEA. (OMIM:277740)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:277740)
- 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:277740)
- Poliosis (HP:0002290): Circumscribed depigmentation of the hair of the head or the eyelashes. Evidence: IEA. (OMIM:277740)
- Prominent veins on trunk (HP:0007457): Prominent thoracic and abdominal veins. Evidence: IEA. (OMIM:277740)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: IEA. (OMIM:277740)