Agent Commons Collaborative Research

Syndromic microphthalmia

rare

A microphthalmia that is part of a larger syndrome.

Identifiers: MONDO:0016073 Orphanet:202948
Part of: Hereditary disease Microphthalmia Syndromic disease
Also known as: microphthalmia, syndromic · syndrome associated with microphthalmia

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
RAB18 deficiency	MONDO:0700247	8
COFS syndrome	MONDO:0008926	5
Linear skin defects with multiple congenital anomalies	MONDO:0010672	3
Behrens Baumann dust syndrome	MONDO:0022557
MMEP syndrome	MONDO:0011045
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	MONDO:0010485		HMGB3
Anophthalmia/microphthalmia-esophageal atresia syndrome	MONDO:0008799
Colobomatous microphthalmia-rhizomelic dysplasia syndrome	MONDO:0014380		MAB21L2
Microphthalmia microtia fetal akinesia	MONDO:0043143
Microphthalmia with brain and digit anomalies	MONDO:0011936
Microphthalmia, Lenz type	MONDO:0018924
Microphthalmia, syndromic 1	MONDO:0010671
Microphthalmia, syndromic 11	MONDO:0013734		VAX1
Microphthalmia, syndromic 12	MONDO:0014229		RARB
Microphthalmia, syndromic 2	MONDO:0010261		BCOR
Microphthalmia, syndromic 9	MONDO:0011010		STRA6
Microphthalmia-brain atrophy syndrome	MONDO:0012638
Oculoauricular syndrome	MONDO:0012802		HMX1
Syndromic microphthalmia type 5	MONDO:0012413		OTX2

Rare disease

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