Rare Disease Library

Hypospadias-hypertelorism-coloboma and deafness syndrome

Hypospadias-hypertelorism-coloboma and hearing loss syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

HPPD · Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Johnson neuroectodermal syndrome

Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome