|
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 |
|
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 |
