Congenital and Genetic Diseases | Page 1

1 Diseases

11-beta-hydroxylase deficiency 12q14 microdeletion syndrome 15q11.2 microdeletion 15q13.3 microdeletion syndrome 15q24 microdeletion syndrome 16p11.2 deletion syndrome 16p13.11 microduplication syndrome 16q24.3 microdeletion syndrome 17-alpha-hydroxylase deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency 17q12 deletion syndrome 17q12 duplication 17q23.1q23.2 microdeletion syndrome 18 Hydroxylase deficiency 19p13.12 microdeletion syndrome 1q21.1 microdeletion syndrome 1q44 microdeletion syndrome

2 Diseases

20p12.3 microdeletion syndrome 22q11.2 deletion syndrome 22q11.2 duplication syndrome 22q13.3 deletion syndrome 2-methyl-3-hydroxybutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2p15p16.1 microdeletion syndrome 2q23.1 microdeletion syndrome 2q37 deletion syndrome

3 Diseases

3-alpha hydroxyacyl-CoA dehydrogenase deficiency 3-beta-hydroxysteroid dehydrogenase deficiency 3-Hydroxyisobutyric aciduria 3MC syndrome 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconyl-CoA hydratase deficiency (AUH defect) 3M syndrome 3q29 microdeletion syndrome

4 Diseases

46,XX testicular disorder of sex development 47 XXX syndrome 47, XYY syndrome 48,XXXY syndrome 48,XYYY 49,XXXXX syndrome 49, XXXXY syndrome 49, XXXYY syndrome

5 Diseases

5-alpha reductase deficiency 5-oxoprolinase deficiency 5q14.3 microdeletion syndrome 5q- syndrome

6 Diseases

6-pyruvoyl-tetrahydropterin synthase deficiency

7 Diseases

7q11.23 duplication syndrome

8 Diseases

8p23.1 duplication syndrome 8q12 microduplication syndrome

A Diseases

Aagenaes syndrome Aarskog syndrome Abdominal aortic aneurysm Abetalipoproteinemia Ablepharon macrostomia syndrome Abruzzo-Erickson syndrome Absence of fingerprints congenital milia Absence of gluteal muscle Absence of Tibia Absence of tibia with polydactyly Absent breasts and nipples Absent patella Acalvaria Acanthosis nigricans Acanthosis nigricans muscle cramps acral enlargement Acardia Acatalasemia Accessory deep peroneal nerve Accessory navicular bone Accessory pancreas Aceruloplasminemia Achalasia microcephaly syndrome Achard syndrome Acheiropody Achondrogenesis Achondrogenesis type 1A Achondrogenesis type 1B Achondrogenesis type 2 Achondroplasia Acitretin embryopathy Acral dysostosis dyserythropoiesis syndrome Acral peeling skin syndrome Acrocallosal syndrome, Schinzel type Acrocapitofemoral dysplasia Acrocephalopolydactyly Acrodermatitis enteropathica Acrodysostosis Acrodysplasia scoliosis Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia Acrofacial dysostosis Catania type Acrofacial dysostosis Palagonia type Acrofacial dysostosis Rodriguez type Acrofrontofacionasal dysostosis syndrome Acrogeria, Gottron type Acrokeratoelastoidosis of Costa Acromegaloid facial appearance syndrome Acromegaloid features, overgrowth, cleft palate and hernia Acromegaloid hypertrichosis syndrome Acromelic frontonasal dysostosis Acromesomelic dysplasia Campailla Martinelli type