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3,287 Possible Causes for No Polydactyly, Onset of Renal Dysfunction in Early Childhood, Retinitis Pigmentosa

  • Alstrom Syndrome

    […] childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly[ncbi.nlm.nih.gov] Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.[ijem.in] Sufferers often develop early-onset type 2 diabetes, renal and hepatic dysfunction affecting the liver and kidneys, bladder and bowel problems, and cardiomyopathy, where the[dailymail.co.uk]

  • Laurence Moon Syndrome

    Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in] Moon: Four cases of «retinitis pigmentosa» occurring in the same family, and accompanied by general imperfections of development.[whonamedit.com] From Wikidata Jump to navigation Jump to search rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities[wikidata.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Cystic Kidney Disease

    Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidney, polydactyly How to cite this article: Panduranga C, Kangle R, Badami R, Patil PV.[ruralneuropractice.com] AR 7 33 RP1 Retinitis pigmentosa AD/AR 21 149 RP1L1 Occult macular dystrophy, Retinitis pigmentosa AD/AR 4 33 RP2 Retinitis pigmentosa XL 14 104 RPE65 Retinitis pigmentosa[blueprintgenetics.com] Keywords: M eckel Syndrome, Central Nervous System Malformations, Polydactyly and Hepatic Developmental Defects 1.[article.sciencepublishinggroup.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Bardet-Biedl Syndrome Type 11

    Retinitis pigmentosa: A symposium on terminology and methods of examination. Ophthalmology. 90, 126–131 (1983). 3 Höring, jr. Retinitis pigmentosa. Klin. monatsbl.[nature.com] […] recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly[medical-dictionary.thefreedictionary.com] Retinitis pigmentosa typically advances to include progressive peripheral field loss.[familyconnect.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Melhem-Fahl Syndrome

    Gordon syndrome Ppm-X Syndrome Prader-Willi syndrome Prader-Willi-Like Syndrome Prata Libéral Gonçalves Syndrome Pre-Excitation Syndromes Preaxial Deficiency, Postaxial Polydactyly[rgd.mcw.edu] pigmentosa Autosomal recessive omodysplasia Beals auriculo-osteodysplasia syndrome Bent bone dysplasia Bent bone dysplasia group Blomstrand dysplasia Bone dysplasia Azouz[icdlist.com] pigmentosa diabetes mellitus Muscular dystrophy Hutterite type Muscular dystrophy congenital infantile cataract hypogonadism Muscular dystrophy congenital, merosin negative[mindmappedia.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Hirschsprung Disease Type D-Brachydactyly Syndrome

    (MIM.604211) hypoplastic nails and dysmorphic facial features (MIM.235760) type D brachydactyly (MIM.306980) ulnar polydactyly, polysyndactyly of big toes and ventricular[humpath.com] Retinitis Pigmentosa 5 Retinitis Pigmentosa 1 5 Retinitis Pigmentosa 10 4 Retinitis Pigmentosa 11 4 Retinitis Pigmentosa 12 5 Retinitis Pigmentosa 13 5 Retinitis Pigmentosa[preventiongenetics.com] […] type 5 with or without polydactyly WDR19 Short-rib thoracic dysplasia type 6 with or without polydactyly NEK1 Short-rib thoracic dysplasia type 7 with or without polydactyly[centogene.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Autosomal Recessive Primary Microcephaly Type 10

    RGR Retinitis pigmentosa 44, 613769 CNGB1 Retinitis pigmentosa 45, 613767 IDH3B Retinitis pigmentosa 46, 612572 SAG Retinitis pigmentosa 47, 613758 GUCA1B Retinitis pigmentosa[gsdseq.ir] […] syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly[se-atlas.de] pigmentosa-foveoschisis-optic disc drusen syndrome 4 Cases 727 Microscopic polyangiitis 1.0 I * 83463 Microtia 15.5 BP 139450 Microtia-eye coloboma- imperforation of the[azkurs.org]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Senior-Løken Syndrome

    Autosomal recessive retinitis pigmentosa (arRP) is a clinically and genetically heterogeneous retinal disease that causes blindness.[ncbi.nlm.nih.gov] Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity[orpha.net] […] of retinitis pigmentosa.[ncbi.nlm.nih.gov]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Pfeiffer-Palm-Teller Syndrome

    Polydactyly postaxiale labial slit mediane Polydactyly postaxiale backwardness Polydactyly preaxiale Polydactyly preaxiale colobome backwardness small size Polydactyly (generic[wikipedia.qwika.com] Flynn Aird syndrome 0 *Cataract *Central Nervous System Diseases *Dental Caries *Hearing Loss, Sensorineural *Joint Diseases *Retinitis Pigmentosa *Skin Diseases.[reference.md] Am J Med Genet. 49(2):247-50 Radioulnar synostosis retinal pigment abnormalities 0 *Growth Disorders *Intellectual Disability *Retinitis Pigmentosa *Synostosis *Facies.[reference.md]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Asphyxiating Thoracic Dysplasia

    If retinitis pigmentosa is present a progressive visual impairment leading to blindness can be expected.[neocyst.de] (Saldino-Noonan), short rib-polydactyly syndrome type 2 (Majewski), and the new short rib syndrome reported by Beemer et al [1983].[ncbi.nlm.nih.gov] Not all patients have ocular disease but those who survive infancy may have a pigmentary retinopathy resembling retinitis pigmentosa.[disorders.eyes.arizona.edu]

    Missing: Onset of Renal Dysfunction in Early Childhood

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