Rare Disease Library

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Cerebral cortical dysplasia

Brain cortical dysplasia

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Dentin dysplasia type I

DD-I · DTDP1

Dentin dysplasia type II

DD-II · DTDP2

Dysplastic cortical hyperostosis

Dysplastic cortical hyperostosis, Al-Gazali type

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Isolated focal cortical dysplasia

Epilepsy due to FCD

Isolated focal cortical dysplasia type I

FCD type I

Isolated focal cortical dysplasia type Ia

FCD type Ia

Isolated focal cortical dysplasia type Ib

FCD type Ib

Isolated focal cortical dysplasia type Ic

FCD type Ic

Isolated focal cortical dysplasia type IIa

FCD type IIa

Isolated focal cortical dysplasia type IIb

FCD type IIb

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening