Disorders: T

Disorders Alternate Names Genes Inheritance Pattern
Takenouchi-Kosaki Syndrome macrothrombocytopenia and mental retardation syndrome CDC42 autosomal dominant
Tangier Disease analphalipoproteinemia, HDLDT1, high density lipoprotein deficiency type 1 ABCA1 autosomal recessive
Tay-Sachs Disease GM2-gangliosidosis, HEXA deficiency, hexosaminidase A deficiency, TSD HEXA autosomal recessive
Temtamy Syndrome colobomas, corpus callosum hypoplasia syndrome, intellectual disability, seizures, TEMTYS C12orf57
Tenorio Syndrome overgrowth macrocephaly and intellectual disability syndrome, TNORS RNF125 autosomal dominant
Tokita-Kim Syndrome TOKIMS, ZTTK syndrome, ZTTKS SON autosomal dominant
Treacher Collins-Franceschetti Syndrome mandibulofacial dysostosis, MFD1, TCOF, TCS, Treacher Collins syndrome TCOF1 autosomal dominant
Trichomegaly Plus Syndrome long eyelashes with mental retardation, Oliver-McFarlane syndrome ? autosomal recessive?
Tuberous Sclerosis 1 Bourneville disease, TS, TSC, tuberose sclerosis, tuberous sclerosis complex TSC1 autosomal dominant
Tuberous Sclerosis 2 TS, TSC2, tuberose sclerosis, tuberous sclerosis complex TSC2 autosomal dominant
Tyrosinemia, Type II keratosis palmoplantaris with corneal dystrophy, oculocutaneous tyrosinosis, Oregon type tyrosinemia, Richner-Hanhart syndrome, TAT deficiency, tyrosine aminotransferase deficiency TAT autosomal recessive