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X-linked hydrocephalia / CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndrome (L1CAM gene)
L1CAM
Hydrocephalus with stenosis of the aqueduct of Sylvius
Centrum Medische Genetica - UZ Brussel VUB
Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction
OTX2
Syndromic microphthalmia type 5
,
Combined pituitary hormone deficiencies, genetic forms
,
Butterfly-shaped pigment dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type
LTBP2
Weill-Marchesani syndrome
,
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Centrum Medische Genetica - UZ Gent
Weill-Marchesani syndrome
Weill-Marchesani - UGent
Weill-Marchesani syndrome
Centrum Medische Genetica - UZ Gent
Septo-optic dysplasia
HESX1
Septo-optic dysplasia spectrum
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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