GARD Rare Disease Listings



GARD Summary
11-beta-hydroxylase deficiency

Also known as: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Adrenal hyperplasia IV Adrenal hyperplasia 4 Steroid 11-beta-hydroxylase deficiency Adrenal hyperplasia hypertensive form P450c11b1 deficiency CAH due to 11-beta-hydroxylase deficiency CYP11B1 deficiency


GARD Summary
12q14 microdeletion syndrome

Also known as: Osteopoikilosis-short stature-intellectual disability syndrome Del(12)(q14) Deletion 12q14 Monosomy 12q14


GARD Summary
15q11.2 microdeletion

Also known as: Chromosome 15q11.2 microdeletion Chromosome 15q11.2 deletion Del(15)(q11.2) 15q11.2 microdeletion syndrome Monosomy 15q11.2 15q11.2 BP1-BP2 microdeletion syndrome


GARD Summary
15q13.3 microdeletion syndrome

Also known as: Chromosome 15q13.3 deletion syndrome Microdeletion 15q13.3 syndrome Chromosome 15q13.3 microdeletion syndrome 15q13.3 microdeletion


GARD Summary
15q13.3 microduplication syndrome

Also known as: 15q13.3 microduplication Chromosome 15q13.3 duplication syndrome Chromosome 15q13.3 microduplication syndrome Microduplication 15q13.3 syndrome



GARD Summary
16p11.2 deletion syndrome

Also known as: Chromosome 16p11.2 deletion syndrome Del(16)(p11.2) Monosomy 16p11.2 Microdeletion 16p11.2


GARD Summary
16p11.2 duplication

Also known as: 16p11.2 duplication syndrome 16p11.2 microduplication Susceptibility to Autism, 14B AUTS14B




GARD Summary
17-alpha-hydroxylase deficiency

Also known as: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia type 5


GARD Summary
17-beta hydroxysteroid dehydrogenase 3 deficiency

Also known as: 17 alpha ketosteroid reductase deficiency of testis 17 alpha KSR deficiency Neutral 17 beta hydroxysteroid oxidoreductase deficiency Male pseudoherma-phroditism with gynecomastia 17 beta hydroxysteroid dehydrogenase III deficiency


GARD Summary
17q12 deletion syndrome

Also known as: Chromosome 17q12 deletion syndrome 17q12 microdeletion syndrome Del(17)(q12) Monosomy 17q12 17q12 recurrent deletion syndrome


GARD Summary
17q12 duplication

Also known as: Chromosome 17q12 duplication syndrome 17q12 microduplication syndrome Trisomy 17q12 Recurrent duplication of 17q12 17q12 microduplication Dup(17)(q12)