Rare Disease Library

Tatton-Brown-Rahman syndrome

DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome

15q overgrowth syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

CHD8 overgrowth syndrome

Chromodomain helicase DNA binding protein 8 overgrowth syndrome · CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome

Cohen-Gibson syndrome

EED-related overgrowth syndrome

Genetic overgrowth/obesity syndrome

Imagawa-Matsumoto syndrome

SUZ12-related overgrowth syndrome

Kosaki overgrowth syndrome

Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

Luscan-Lumish syndrome

SETD2-related overgrowth syndrome

Malan overgrowth syndrome

Sotos syndrome 2

Non-syndromic limb overgrowth

Overgrowth syndrome

Overgrowth syndrome with 2q37 translocation

Overgrowth/obesity syndrome

PIK3CA-related overgrowth syndrome

PROS

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2