Rare Disease Library

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ELOVL4-related neuro ichthyosis · Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Inherited congenital spastic tetraplegia

Inherited congenital spastic quadriplegia

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

OBSOLETE: Congenital cataract-ichthyosis syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Porencephaly-microcephaly-bilateral congenital cataract syndrome

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome