Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Kabuki Syndrome 1 | KMT2D | KMS, KABUK1, Kabuki make-up syndrome, Niikawa-Kuroki syndrome | 147920 | autosomal dominant |
| Kabuki Syndrome 2 | KDM6A | KABUK2 | 300867 | X-linked |
| Kahrizi Syndrome | SRD5A3 | KHRZ, cataract mental retardation coloboma and kyphosis | 612713 | autosomal recessive |
| Kaufman Oculocerebrofacial Syndrome | UBE3B | KOS, BPIDS, blepharophimosis-ptosis-intellectual disability syndrome | 244450 | autosomal dominant |
| Kearns-Sayre Syndrome | mitochondrial | mitochondrial cytopathy, CPEO with myopathy, CPEO with ragged-red fibers, oculocraniosomatic syndrome, KSS | 530000 | mitochondrial |
| Kenny-Caffey Syndrome, Type 2 | FAM111A | Kenny syndrome, dwarfism with cortical thickening of long bones and transient hypocalcemia, KCS2 | 127000 | autosomal dominant |
| Keratitis, Hereditary | PAX6 | 148190 | autosomal dominant | |
| Keratoconus 1 | VSX1 | KTCN1 | 148300 | autosomal dominant |
| Keratoconus 2 | 16q22.3-q23.1 locus | KTCN2 | 608932 | autosomal dominant |
| Keratoconus 3 | 3p14-q13 locus | KTCN3 | 608586 | autosomal dominant |
| Keratoconus 4 | 2p24 locus | KTCN4 | 609271 | autosomal dominant |
| Keratoconus 9 | TUBA3D | KTCN9 | 617928 | autosomal dominant |
| Keratoconus Posticus Circumscriptus | ? | KPC | 244600 | autosomal recessive? |
| Keratoendotheliitis Fugax Hereditaria | NLRP3 | keratitis fugax hereditaria, KEFH | 148200 | autosomal dominant |
| Keratosis Follicularis Spinulosa Decalvans, AD | ? | KFSD | 612843 | autosomal dominant |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked | SAT1 | keratosis follicularis spinulosa decalvans cum ophiasia, KFSDX, Siemens-1 syndrome | 308800 | X-linked recessive, autosomal dominant? |
| KID Syndrome | GJB2 | keratitis-ichthyosis-deafness syndrome, Desmons syndrome, Senter syndrome | 242150, 148210 | autosomal dominant, autosomal recessive? |
| Kniest Dysplasia | COL2A1 | KND | 156550 | autosomal dominant |
| Knobloch Syndrome 1 | COL18A1 | retinal detachment and occipital encephalocele, KNO1 | 267750 | autosomal recessive |
| Knobloch Syndrome 2 | ADAMTS18 | KNO2 | 608454 | autosomal recessive? |
| Knobloch Syndrome 3 | 17q11.2 locus | Knobloch III variant, KNO3 | autosomal recessive | |
| Krabbe Disease | GALC | GLD, GCL, GALC deficiency, globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency | 245200 | autosomal recessive |
| Kufor-Rakeb Syndrome | ATP13A2 | RS, KRPPD, Parkinson disease 9 | 606693 | autosomal recessive |