autosomal recessive disease obsolete rare hereditary metabolic disease with peripheral neuropathy cutis laxa inborn disorder of proline metabolism de Barsy syndrome https://www.malacards.org/card/autosomal_recessive_cutis_laxa_type_iii De Barsy syndrome MONDO:0017569 progeroid syndrome, de Barsy type cutis laxa-corneal clouding-intellectual disability syndrome corneal clouding, cutis laxa and mental retardation GARD:0000049 A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. progeroid syndrome, De Barsy type corneal clouding, cutis laxa and intellectual disability progeroid syndrome of de Barsy Orphanet:2962 MEDGEN:82794 NORD:1034 MESH:C535990 SCTID:238826008 UMLS:C0268354 DOID:0070143 PMID:18388779 cutis laxa growth deficiency syndrome obsolete neurometabolic disease premature aging syndrome obsolete syndromic corneal dystrophy obsolete cataract associated with a metabolic disease obsolete metabolic disease with cataract