Rare Disease Library

Radial ray hypoplasia-choanal atresia syndrome

Goldblatt-Viljoen syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Cleidorhizomelic syndrome

Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

Frontofacionasal dysplasia

Gollop syndrome

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Goldenhar syndrome

Facioauriculovertebral sequence

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome