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10p Deletion Syndrome (partial)
22q11 Deletion Syndrome +
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy
46,XY sex reversal 4 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. (DO)
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia
alpha thalassemia-intellectual disability syndrome type 1
autosomal dominant intellectual developmental disorder 22
Axenfeld-Rieger syndrome type 2
chromosome 10q23 deletion syndrome
Chromosome 11p Deletion Syndrome
Chromosome 13q Deletion Syndrome +
chromosome 13q14 deletion syndrome
Chromosome 13q33-q34 Deletion Syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
Chromosome 15q14 Deletion Syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 220-kb
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 16p12.1 deletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q41-q42 deletion syndrome +
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 2q37 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4q21 deletion syndrome
chromosome 5q deletion syndrome
chromosome 5q12 deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome Xp21 deletion syndrome
Chromosome Xq21 Deletion Syndrome
congenital adrenal insufficiency
distal 10q deletion syndrome
Genito Palato Cardiac Syndrome
hereditary nonpolyposis colorectal cancer type 8
Homozygous 11p15-p14 Deletion Syndrome
hypoparathyroidism-deafness-renal disease syndrome
hypotonia-cystinuria syndrome
Meacham Winn Culler Syndrome
Miller-Dieker lissencephaly syndrome
Monosomy 7 Myelodysplasia and Leukemia Syndrome +
Myoectodermal Gonadal Dysgenesis Syndrome
Nablus Mask-Like Facial Syndrome
posterior amorphous corneal dystrophy
Rubinstein-Taybi syndrome +
SATB2-associated syndrome
Sensorineural Deafness and Male Infertility
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
thrombocytopenia-absent radius syndrome
Williams-Beuren syndrome +
Y-linked spermatogenic failure 1
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