GARD Rare Disease Listings

Rare Disease Database

Rare Disease Database GARD Rare Diseases Database
GARD Summary
22q13.3 deletion syndrome

Also known as: Phelan-McDermid syndrome Deletion 22q13.3 syndrome Chromosome 22q13.3 deletion syndrome Monosomy 22q13 22q13.3 deletion Monosomy 22q13.3 22q13 deletion

GARD Summary
2q23.1 microdeletion syndrome

Also known as: Del(2)(q23.1) Monosomy 2q23.1 Pseudo-Angelman syndrome Chromosome 2q23.1 microdeletion syndrome

GARD Summary
2q37 deletion syndrome

Also known as: Chromosome 2q37 deletion syndrome Albright hereditary osteodystrophy-like syndrome Brachydactyly-Intellectual disability syndrome

GARD Summary
3-beta-hydroxysteroid dehydrogenase deficiency

Also known as: Adrenal hyperplasia 2 Adrenal hyperplasia II 3b-hydroxysteroid dehydrogenase deficiency HSD3B deficiency 3-beta-HSD deficiency Type II 3-beta-hydroxysteroid dehydrogenase deficiency CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

GARD Summary
3M syndrome

Also known as: Three M syndrome Gloomy face syndrome 3M1 Dolichospondylic dysplasia Le Merrer syndrome 3-MSBN Three-M slender-boned nanism Yakut short stature syndrome 3-M syndrome

GARD Summary
3MC syndrome

Also known as: Craniofacial-ulnar-renal syndrome Malpuech-Michels-Mingarelli-Carnevale syndrome

GARD Summary
3q29 microdeletion syndrome

Also known as: Chromosome 3q29 microdeletion syndrome 3q subtelomere deletion syndrome 3q29 deletion Monosomy 3q29 3q29 deletion syndrome 3qter deletion Del(3)(q29) Monosomy 3qter

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