Disorders: K

Disorders Alternate Names Genes Inheritance Pattern
Kabuki Syndrome 1 KABUK1, Kabuki make-up syndrome, KMS, Niikawa-Kuroki syndrome KMT2D autosomal dominant
Kabuki Syndrome 2 KABUK2 KDM6A X-linked
Kahrizi Syndrome cataract mental retardation coloboma and kyphosis, KHRZ SRD5A3 autosomal recessive
Kaufman Oculocerebrofacial Syndrome blepharophimosis-ptosis-intellectual disability syndrome, BPIDS, KOS UBE3B autosomal dominant
Kearns-Sayre Syndrome CPEO with myopathy, CPEO with ragged-red fibers, KSS, mitochondrial cytopathy, oculocraniosomatic syndrome mitochondrial mitochondrial
Kenny-Caffey Syndrome, Type 2 dwarfism with cortical thickening of long bones and transient hypocalcemia, KCS2, Kenny syndrome FAM111A autosomal dominant
Keratitis, Hereditary PAX6 autosomal dominant
Keratoconus 1 KTCN1 VSX1 autosomal dominant
Keratoconus 2 KTCN2 16q22.3-q23.1 locus autosomal dominant
Keratoconus 3 KTCN3 3p14-q13 locus autosomal dominant
Keratoconus 4 KTCN4 2p24 locus autosomal dominant
Keratoconus Posticus Circumscriptus KPC ? autosomal recessive?
Keratosis Follicularis Spinulosa Decalvans keratosis follicularis spinulosa decalvans cum ophiasia, KFSDX, Siemens-1 syndrome SAT1 autosomal dominant?, X-linked recessive
KID Syndrome Desmons syndrome, keratitis-ichthyosis-deafness syndrome, Senter syndrome GJB2 autosomal dominant, autosomal recessive?
Kniest Dysplasia KND COL2A1 autosomal dominant
Knobloch Syndrome 1 KNO1, retinal detachment and occipital encephalocele COL18A1 autosomal recessive
Knobloch Syndrome 2 KNO2 ADAMTS18 autosomal recessive?
Knobloch Syndrome 3 KNO3, Knobloch III variant 17q11.2 locus autosomal recessive
Krabbe Disease galactosylceramide beta-galactosidase deficiency, GALC deficiency, GCL, GLD, globoid cell leukoencephalopathy GALC autosomal recessive
Kufor-Rakeb Syndrome KRPPD, Parkinson disease 9, RS ATP13A2 autosomal recessive