Clinical Genetics Midterm Inheritance/Genes

Achondroplasia inheritance

autosomal dominant

Achondroplasia gene

FGFR3

Van der Woude Syndrome inheritance

autosomal dominant

Neurofibromatosis inheritance

autosomal dominant

Osteogenesis Imperfecta inheritance

autosomal dominant

Osteogenesis Imperfecta gene

COL1A1/2

Ellis van Creveld inheritance

autosomal recessive

Amelogenesis imperfecta inheritence

x linked recessive

Oro-facial digital syndrome type I inheritence

x linked dominant

Oro-facial digital syndrome type I gene

OFD1

Patau syndrome chromosomal type

trisomy 13

Down syndrome chromosomal type

trisomy 21

Cri du chat chromosomal type

5p-

Turner syndrome chromosomal type

XO

Klinefelter syndrome chromosomal type

xxy

DiGeorge syndrome chromosomal type

22q11.2

Hypohidrotic ectodermal dysplasia inheritance

x-linked recessive

Hypohidrotic ectodermal dysplasia gene

EDA

ectodermal dysplasia inheritance

autosomal recessive

ectodermal dysplasia gene

EDAR/EDARADD

tooth and nail syndrome inheritance

autosomal dominant

tooth and nail syndrome gene

MSX1

book syndrome inheritance

autosomal dominant

EEC syndrome inheritance

autosomal dominant

EEC syndrome gene

TP63

Peutz-jeghers syndrome inheritance

Peutz-jeghers syndrome gene

SKT11

Nevoid basal cell carcinoma syndrome inheritance

autosomal dominant

nevoid basal cell carcinoma gene

PTCH1

Gardner syndrome inheritance

autosomal dominant

gardner syndrome gene

APC

Multiple endocrine neoplasia type II B inheritance

autosomal dominant

Dyskeratosis congenita inheritance

x linked recessive OR autosomal recessive