Phenotype: X-linked dominant inheritance (HP:0001423)
Associated genes and diseases:
gene_symbol: AMELX
disease_id: OMIM:301200
disease_name: AMELOGENESIS IMPERFECTA, TYPE IE
gene_symbol: SMC1A
disease_id: OMIM:300590
disease_name: CORNELIA DE LANGE SYNDROME 2
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: ZC4H2
disease_id: OMIM:301041
disease_name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: CDKL5
disease_id: OMIM:300672
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2
gene_symbol: DIAPH2
disease_id: OMIM:300511
disease_name: PREMATURE OVARIAN FAILURE 2A
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: CLCN4
disease_id: OMIM:300114
disease_name: RAYNAUD-CLAES SYNDROME
gene_symbol: ALAS2
disease_id: OMIM:300752
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED
gene_symbol: NDUFB11
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: NDUFB11
disease_id: OMIM:300952
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
gene_symbol: COX7B
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: COX7B
disease_id: OMIM:300887
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
gene_symbol: HCCS
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: HSD17B10
disease_id: OMIM:300438
disease_name: HSD10 MITOCHONDRIAL DISEASE
gene_symbol: RNF113A
disease_id: OMIM:300953
disease_name: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
gene_symbol: CCNQ
disease_id: OMIM:300707
disease_name: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
gene_symbol: CASK
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: G6PD
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: PDK3
disease_id: OMIM:300905
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: SRY
disease_id: OMIM:400045
disease_name: 46,XX SEX REVERSAL 1
gene_symbol: TLR7
disease_id: OMIM:301080
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS 17
gene_symbol: FLNA
disease_id: OMIM:300244
disease_name: TERMINAL OSSEOUS DYSPLASIA
gene_symbol: FLNA
disease_id: OMIM:300049
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 1
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: FLNA
disease_id: OMIM:309350
disease_name: MELNICK-NEEDLES SYNDROME
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: HDAC8
disease_id: OMIM:300882
disease_name: CORNELIA DE LANGE SYNDROME 5
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
gene_symbol: PDHA1
disease_id: OMIM:312170
disease_name: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
gene_symbol: RPS6KA3
disease_id: OMIM:300844
disease_name: MENTAL RETARDATION, X-LINKED 19
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: FHL1
disease_id: OMIM:300717
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
gene_symbol: FHL1
disease_id: OMIM:300695
disease_name: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
gene_symbol: EDA
disease_id: OMIM:313500
disease_name: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: DDX3X
disease_id: OMIM:300958
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
gene_symbol: IQSEC2
disease_id: OMIM:309530
disease_name: MENTAL RETARDATION, X-LINKED 1
gene_symbol: COL4A3
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: COL4A4
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: COL4A5
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: TCEAL1
disease_id: OMIM:301094
disease_name: HIJAZI-REIS SYNDROME
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: PHEX
disease_id: OMIM:307800
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
gene_symbol: SYN1
disease_id: OMIM:300491
disease_name: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
gene_symbol: NHS
disease_id: OMIM:302350
disease_name: NANCE-HORAN SYNDROME
gene_symbol: WDR45
disease_id: OMIM:300894
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: UBQLN2
disease_id: OMIM:300857
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: GDI1
disease_id: OMIM:300849
disease_name: MENTAL RETARDATION, X-LINKED 41
gene_symbol: ZMYM3
disease_id: OMIM:301111
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: ACSL4
disease_id: OMIM:300387
disease_name: MENTAL RETARDATION, X-LINKED 63
gene_symbol: MSL3
disease_id: OMIM:301032
disease_name: BASILICATA-AKHTAR SYNDROME
gene_symbol: SMPX
disease_id: OMIM:300066
disease_name: DEAFNESS, X-LINKED 4
gene_symbol: FMR1
disease_id: OMIM:300623
disease_name: FRAGILE X TREMOR/ATAXIA SYNDROME
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
gene_symbol: HDAC6
disease_id: OMIM:300863
disease_name: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
gene_symbol: GJB1
disease_id: OMIM:302800
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
gene_symbol: KDM6A
disease_id: OMIM:300867
disease_name: KABUKI SYNDROME 2
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: GPR101
disease_id: OMIM:300942
disease_name: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
gene_symbol: MECP2
disease_id: OMIM:312750
disease_name: RETT SYNDROME
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: F8
disease_id: OMIM:301071
disease_name: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT