Rare Disease Library

Epidermal nevus syndrome

Epidermal hamartoma syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Congenital hypothalamic hamartoma syndrome

CHHS

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Linear verrucous nevus syndrome

Linear hamartoma syndrome

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

PTEN hamartoma tumor syndrome

PHTS