| Disease ID | Source | Name | Description |
| 607131 | OMIM | Al-Gazali-Bakalinova syndrome (AGBK) | An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. The disease is caused by variants affecting the gene represented in this entry. |
| 614120 | OMIM | Hydrolethalus syndrome 2 (HLS2) | An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. The disease is caused by variants affecting the gene represented in this entry. |
| 200990 | OMIM | Acrocallosal syndrome (ACLS) | An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation. The disease is caused by variants affecting the gene represented in this entry. |
| 200990 | OMIM | Acrocallosal syndrome (ACLS) | An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and mental retardation. The disease is caused by variants affecting the gene represented in this entry. |
| 209900 | OMIM | Bardet-Biedl syndrome (BBS) | A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity. |