Rare Disease Library

Mikati-Najjar-Sahli syndrome

Microcephaly-hypergonadotropic hypogonadism-short stature syndrome

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan syndrome

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Hydrocephalus-obesity-hypogonadism syndrome

Sengers-Hamel-Otten syndrome

Hypergonadotropic hypogonadism-cataract syndrome

Lubinsky syndrome

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

Salti-Salem syndrome

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Al Awadi-Farag-Teebi syndrome