chromosomal duplication syndrome +
X-linked dominant disease +

46,XX sex reversal 1
46,XX sex reversal 3
7q11.23 duplication syndrome
alpha thalassemia-X-linked intellectual disability syndrome
amelogenesis imperfecta type 1E
autosomal dominant nonsyndromic deafness 51
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
CHILD syndrome
Christianson syndrome
chromosome 16p11.2 duplication syndrome
chromosome 16p13.3 duplication syndrome
chromosome 17p13.3 duplication syndrome
chromosome 17q12 duplication syndrome
chromosome 17q21.31 duplication syndrome
chromosome 1p36.33 duplication syndrome
chromosome 1q21.1 duplication syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 22q13 duplication syndrome
chromosome 2q31.1 duplication syndrome
chromosome 3q29 microduplication syndrome
chromosome 5p13 duplication syndrome
Coffin-Lowry syndrome
congenital disorder of glycosylation type IIm
congenital nystagmus 5
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 5
craniofrontonasal syndrome
Danon disease
deafness, dystonia, and cerebral hypomyelination
developmental and epileptic encephalopathy 2
developmental and epileptic encephalopathy 36
developmental and epileptic encephalopathy 85
developmental and epileptic encephalopathy 9
Down syndrome
Edwards syndrome
female-restricted syndromic X-linked intellectual disability 99
focal dermal hypoplasia
fragile X syndrome
hereditary mixed polyposis syndrome 1
Klinefelter syndrome
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 3
Lisch epithelial corneal dystrophy
Nance-Horan syndrome
neurodegeneration with brain iron accumulation 5
non-syndromic X-linked intellectual disability 1
non-syndromic X-linked intellectual disability 107
non-syndromic X-linked intellectual disability 19
non-syndromic X-linked intellectual disability 2
non-syndromic X-linked intellectual disability 41
non-syndromic X-linked intellectual disability 63
non-syndromic X-linked intellectual disability 89
non-syndromic X-linked intellectual disability 91
non-syndromic X-linked intellectual disability 98
nonphotosensitive trichothiodystrophy 5
orofaciodigital syndrome I
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
partial trisomy distal 4q
Potocki-Lupski syndrome
primary ovarian insufficiency 2A
Raynaud-Claes syndrome
reducing body myopathy 1A
split hand-foot malformation 3
syndactyly type 1
syndromic microphthalmia 2
syndromic X-linked intellectual disability Lubs type
X-linked Alport syndrome
X-linked chondrodysplasia punctata 2 +
X-linked dominant hypophosphatemic rickets
X-linked endothelial corneal dystrophy