Diko : en:intellectual disability with cataract and kyphosis syndrome

en:intellectual disability with cataract and kyphosis syndrome

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umls:CL518155

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108

en:yemenite deaf-blind hypopigmentation syndrome

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en:hypomandibular faciocranial dysostosis

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en:hydrocephalus, endocardial fibroelastosis, and cataracts

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en:kallman syndrome with heart disease

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en:hall riggs syndrome

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en:oculocutaneous albinism type 6

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en:braddock syndrome

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en:moyamoya disease with early onset achalasia

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en:microcephaly albinism digital anomalies syndrome

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en:adducted thumbs and arthrogryposis syndrome christian type

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en:x-linked intellectual disability van esch type

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en:congenital disorder of glycosylation type 2e

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en:cervical hypertrichosis and peripheral neuropathy syndrome

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en:acrorenal mandibular syndrome

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en:17q11.2 microduplication syndrome

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en:familial median cleft of upper and lower lip

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en:manouvrier syndrome

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en:diaphanospondylodysostosis

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en:bamforth syndrome

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en:craniosynostosis with facial dysmorphism and brachydactyly syndrome

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en:x-linked intellectual disability armfield type

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en:x-linked intellectual disability with acromegaly and hyperactivity syndrome

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en:x-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome

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en:robinow-like syndrome

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en:fried syndrome

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en:spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

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en:renal dysplasia - limb defects syndrome

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en:ehlers-danlos syndrome kyphoscoliotic and deafness type

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en:congenital analbuminemia

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en:craniofacial ulnar renal syndrome

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en:aniridia and intellectual disability syndrome

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en:12q14 microdeletion syndrome

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en:morava mehes syndrome

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en:dyschondrosteosis and nephritis syndrome

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en:trisomy xq28 syndrome

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en:hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome

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en:mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency

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en:cooper jabs syndrome

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en:generalized peeling skin syndrome

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en:heart defects limb shortening

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en:scholte syndrome

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en:pelviscapular dysplasia

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syndrome

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en:najjar syndrome

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en:primary immunodeficiency syndrome due to p14 deficiency

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en:acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein

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en:x-linked intellectual disability miles carpenter type

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en:congenital disorder of glycosylation type 1h

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en:intellectual

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en:x-linked intellectual disability pai type

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cataracte

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en:x-linked intellectual disability stevenson type

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en:cleidorhizomelic syndrome

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en:ectodermal dysplasia with blindness syndrome

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en:glaucoma and sleep apnea syndrome

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en:dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

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en:gracile bone dysplasia

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en:fountain syndrome

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en:aniridia, ptosis, intellectual disability, familial obesity syndrome

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en:congenital cataract with ataxia and deafness syndrome

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en:deafness and myopia syndrome

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en:autosomal recessive spastic paraplegia type 39

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en:x-linked intellectual disability with ataxia and apraxia syndrome

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en:x-linked intellectual disability, macrocephaly, macroorchidism syndrome

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en:lissencephaly type 3 familial fetal akinesia sequence syndrome

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en:zellweger-like syndrome without peroxisomal anomaly

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en:palmoplantar keratoderma, 46,xx sex reversal, predisposition to squamous cell carcinoma syndrome

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en:cataract glaucoma syndrome

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en:czech dysplasia, metatarsal type

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en:brachioskeletogenital syndrome

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en:arachnodactyly and intellectual disability with facial dysmorphism syndrome

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en:preaxial deficiency, postaxial polydactyly and hypospadias

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en:osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome

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en:1p21.3 microdeletion syndrome

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en:lethal larsen-like syndrome

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en:x-linked intellectual disability seemanova type

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en:spondyloepiphyseal dysplasia tarda kohn type

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en:leukoencephalopathy with metaphyseal chondrodysplasia syndrome

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en:glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

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en:x-linked intellectual disability stoll type

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en:cutaneous photosensitivity and lethal colitis syndrome

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en:short fifth metacarpal insulin resistance syndrome

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en:kosztolanyi syndrome

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en:mental retardation syndrome, belgian type

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en:pili torti onychodysplasia syndrome

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en:piussan lenaerts mathieu syndrome

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en:anauxetic dysplasia

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en:brain calcification rajab type

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en:mental retardation spasticity ectrodactyly

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en:congenital disorder of glycosylation, type if

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en:congenital kyphosis, occipito-atlanto-axial region

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en:pigmented paravenous chorioretinal atrophy

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en:split-hand/foot malformation 3

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en:bestrophinopathy, autosomal recessive

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en:polydactyly, preaxial ii (disorder)

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en:congenital kyphosis, unspecified region

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en:disorder of eye co-occurrent and due to marfan syndrome

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en:insulin growth factor i deficiency

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en:metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

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en:other anomalies of ribs and sternum

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rétinite pigmentaire paraveineuse

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en:mesoaxial synostotic syndactyly with phalangeal reduction syndrome

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en:deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

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en:bone dysplasia azouz type

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en:congenital disorder of glycosylation type id

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en:congenital disorder of glycosylation type ie

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en:late-onset junctional epidermolysis bullosa

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