Rare Disease Library

Syndromic eyelid coloboma

Syndromic palpebral coloboma

Abruzzo-Erickson syndrome

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

Coloboma of inferior eyelid

Inferior palpebral coloboma

Coloboma of superior eyelid

Superior palpebral coloboma

Nasopalpebral lipoma-coloboma syndrome

Non-syndromic pouch colon

Non-syndromic ARM with pouch colon · Non-syndromic anorectal malformation with pouch colon

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type