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11 Possible Causes for 3rd-4th Toe Clinodactyly, Epileptic Encephalopathy, Mild to Severe Mental Retardation

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  • Hereditary Hyperekplexia

    […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] mental retardation and epilepsy.[ncbi.nlm.nih.gov] […] in epileptic encephalopathies.[blueprintgenetics.com]

  • Autosomal Dominant Mental Retardation Type 5

    - 5th fingers; Short middle phalanx of the 5th finger; Fifth finger camptodactyly; Midphalangeal hypoplasia; Clinodactyly; [Feet]; Syndactyly of 3rd - 4th toes SKIN, NAILS[findzebra.com] An autosomal dominant condition (OMIM:614608) characterised by multiple congenital anomalies, severe mental retardation and maladaptative behaviour appearing during the developmental[medical-dictionary.thefreedictionary.com] SYNGAP1 is primarily associated with three main phenotypes, including non-syndromic intellectual disability, autism, and epileptic encephalopathy.[epilepsygenetics.net]

  • Glutamate Formiminotransferase Deficiency

    […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] There are two forms of the disorder: a severe phenotype and a mild phenotype.[egl-eurofins.com] encephalopathy, sudden infant death, unusual clinical and laboratory findings, post-mortem investigations, etc.[books.google.com]

  • Ring Chromosome 7

    […] syndactyly Webbed 3rd-4th toes 0009779 Bifid uvula 0000193 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Holoprosencephaly 0001360 Median[rarediseases.info.nih.gov] We report on a boy with ring chromosome 7 who had severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, and genital[ncbi.nlm.nih.gov] encephalopathies.[epilepsy.com]

  • Kleiner Holmes Syndrome

    […] fingers); Bifid terminal phalanges digits 2 and 3; Absent first metatarsal; Brachydactyly; Fifth finger clinodactyly; Syndactyly (often 3rd-4th toes); Hallux valgus; Increased[panelapp.genomicsengland.co.uk] Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration Sezary's disease Shaheen Syndrome Shaken Baby Syndrome Shapiro Syndrome Sharma Kapoor Ramji[rgd.mcw.edu] Craniosynostosis of coronal, lambdoid, and/or metopic sutures; Acrocephaly; Parietal foramina; Small ilia; Large ischia; Radioulnar synostosis; Mild syndactyly (often 2nd-3rd[panelapp.genomicsengland.co.uk]

  • Craniodiaphyseal Dysplasia

    […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] retardation syndrome, Belgian type Maturity-onset diabetes of the young Lelis syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Glycogen storage[checkrare.com] encephalopathy, early infantile, 1 Sanger Sequencing of the ARX gene Epileptic encephalopathy, early infantile, 16 Sanger sequencing of the TBC1D24 gene Epileptic encephalopathy[pentacorelab.hu]

  • Schneckenbecken Dysplasia

    […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] encephalopathy, early infantile, 1 308350 ARX Epileptic encephalopathy, early infantile, 12 613722 PLCB1 Epileptic encephalopathy, early infantile, 15 615006 ST3GAL3 Epileptic[genlab.gr] Chondrodysplasia punctata, X-linked recessive 302950 A RX Xp21.3 Epileptic encephalopathy, early infantile, 1 308350 Hydranencephaly with abnormal genitalia 300215 Lissencephaly[institutobernabeu.com]

  • X-Linked Syndromic Mental Retardation 11

    3rd and 4th & 5th toe short palpebral fissures esophageal and/or duodenal atresia External links GeneReview/NIH/UW entry on Feingold syndrome Feingold syndrome (FS), also[findzebra.com] Claes S et al. (1997) X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. [ ] 4.[moldiag.com] encephalopathy, early infantile, XL ARSE Chondrodysplasia punctata, X-linked ARSF Intellectual disability ARX Mental retardation, X-linked syndromic and non-syndromic, XL[preventiongenetics.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    3rd and 4th & 5th toe short palpebral fissures esophageal and/or duodenal atresia External links GeneReview/NIH/UW entry on Feingold syndrome Feingold syndrome (FS), also[findzebra.com] Title Other Names: Hennekam Beemer syndrome; Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation Categories: This disease is[rarediseases.info.nih.gov] encephalopathy 9 Early Onset Parkinsonism with Mental Retardation EAST syndrome ectodermal dysplasia Ectodermal Dysplasia Mental Retardation Syndactyly Ectodermal Dysplasia-Skin[rgd.mcw.edu]

  • Hereditary Pyropoikilocytosis

    […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] , 1, 308350 CDKL5 Epileptic encephalopathy, early infantile, 2, 300672 SLC25A22 Epileptic encephalopathy, early infantile, 3, 609304 STXBP1 Epileptic encephalopathy, early[gsdseq.ir] Hyperparathyroidism, neonatal severe Mental retardation, autosomal dominant 28 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis X-Linked mental retardation 90 Mental[amp.pharm.mssm.edu]

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