Rare Disease Library

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

46,XX difference of sex development

46,XX DSD · 46,XX disorder of sex development

46,XX difference of sex development-anorectal anomalies syndrome

46,XX disorder of sex development-anorectal anomalies syndrome

46,XX difference of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

46,XY difference of sex development

46,XY disorder of sex development · 46,XY DSD

Chondrodysplasia-difference of sex development syndrome

Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Difference of sex development

DSD · Disorder of sex development

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

Dysmorphism-conductive hearing loss-heart defect syndrome

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Thong-Douglas-Ferrante syndrome · Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome

Syndrome with 46,XX difference of sex development

Syndrome with 46,XX DSD · Syndrome with 46,XX disorder of sex development

Syndrome with 46,XY difference of sex development

Syndrome with 46,XY disorder of sex development · Syndrome with 46,XY DSD

Syndrome with difference of sex development of gynecological interest

Syndrome with DSD of gynecological interest · Syndrome with disorder of sex development of gynecological interest

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome