Phenotypes associated with the disease lethal short-limb skeletal dysplasia, Al Gazali type (OMIM:601356):
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: IEA. (OMIM:601356)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:601356)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. (OMIM:601356)
- Shortening of all metacarpals (HP:0005720): Abnormal reduction in length of all metacarpal bones. Evidence: TAS. (OMIM:601356)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: IEA. (OMIM:601356)
- Shortening of all phalanges of fingers (HP:0011910): Abnormal reduction in length affecting all phalanges. Evidence: TAS. (OMIM:601356)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:601356)
- 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:601356)
- Lethal skeletal dysplasia (HP:0005716). Evidence: TAS. (OMIM:601356)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: IEA. (OMIM:601356)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. (OMIM:601356)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: IEA. (OMIM:601356)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: IEA. (OMIM:601356)