Rare Disease Library

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

MGA7 · 3-methylglutaconic aciduria type 7

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Arrhinia-choanal atresia-microphthalmia syndrome

Cataract-microcornea syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypomyelination-congenital cataract syndrome

Hypopituitarism-microphthalmia syndrome

Kaplowitz-Bodurtha syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

Lethal congenital contracture syndrome

LCCS

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

Lethal congenital contracture syndrome type 3

LCCS3

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Microphthalmia with brain and digit anomalies

Bakrania-Ragge syndrome · MCOPS6

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Microphthalmia-microtia-fetal akinesia syndrome

Thomas-Jewett-Raines syndrome

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

OBSOLETE: Cardioskeletal syndrome

OBSOLETE: Congenital cataract-ichthyosis syndrome

OBSOLETE: Congenital cataract, Volkmann type

OBSOLETE: Congenital hydromyelia

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

OBSOLETE: Craniosynostosis-cataract syndrome

OBSOLETE: Infantile non-syndromic cataract

OBSOLETE: Mickleson syndrome

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Behrens-Baumann-Vogel syndrome · OBSOLETE: Microphthalmia-optic nerve aplasia syndrome

OBSOLETE: Peters anomaly-cataract syndrome

OBSOLETE: Rare non-syndromic cataract

OBSOLETE: Syndrome associated with a congenital cardiopathy

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome