A gene mutation has been identified in the two copies of the children whereas they are only present in single copies of the parents and in unaffected sibs. [disorders.eyes.arizona.edu]

Acronym KHRZ Synonyms Autosomal recessive mental retardation cataract coloboma and kyphosis Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Osteoporosis

  Bone Mineral Density Quantitative Trait Locus Osteoporosis, Involutional Osteoporosis, Postmenopausal BMND 166710 Genetic Test Registry Osteoporosis-Pseudoglioma Syndrome Osteogenesis Imperfecta, Ocular Form OPPG OPS 259770 Genetic Test Registry Otofaciocervical [ukgtn.nhs.uk]

  Low Back Pain: a Randomized Clinical Trial Volume 1, Issue 1, Winter 2016, Page 1-5 Maryam Alighias; Sedigheh Sadat Tavafian; Shamsedin Niknami Show Article | PDF (222 K) 2 A Health Promotion Program based on the Health Belief Model regarding Women’s Osteoporosis [ijmpp-old.modares.ac.ir]

  166710 COL1A2 7q21.3 Ehlers-Danlos syndrome, cardiac valvular form 225320 Ehlers-Danlos syndrome, type VIIB 130060 Osteogenesis imperfecta, type II 166210 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type IV 166220 Osteoporosis, [institutobernabeu.com]

  Syndrome Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome Ameloonychohypohidrotic Syndrome Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis [rgd.mcw.edu]

• Arthralgia

  Proteinuria High palate Hypothyroidism Midface retrusion Depressivity Micropenis Proptosis Arthritis Growth abnormality Bifid uvula Hypotrichosis Recurrent otitis media Otitis media Ectodermal dysplasia High myopia Cerebral calcification Full cheeks Arthralgia [mendelian.co]

• Visual Impairment

  The visual impairment played a significant role in the psychomotor developmental delay, especially in the two sisters of Family 3. [academic.oup.com]

  Sensorineural hearing impairment Microcephaly Wide mouth Anteverted nares Hernia Ptosis Abnormal facial shape Epicanthus Low-set ears Generalized hypotonia Autosomal recessive inheritance Micrognathia Hyperactivity Frontal bossing Visual impairment Muscular [mendelian.co]

  Visual acuity has not been reported but "variable visual impairment" has been described. One patient was considered to have cortical visual impairment. [disorders.eyes.arizona.edu]

• Bulbous Nose

  Nose: Bulbous Nose Broad Nasal Bridge Neurological Central Nervous System: Delayed Motor Development Severe Mental Retardation Speech Never Acquired Skeletal Limbs: Knee Contractures Skin Nails Hair Skin: Capillary hemangioma Clinical features[edit] Three [en.wikipedia.org]

  Symptoms of Kahrizi syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of connective tissue Elbow flexion contracture Knee flexion contracture Abnormality of head or neck Bulbous nose Iris coloboma Thick lower lip vermilion [familydiagnosis.com]

  Related phenotypes are thick lower lip vermilion and bulbous nose Disease Ontology : 12 An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation [malacards.org]

  Bulbous nose MedGen UID: 66013 •Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose. [ncbi.nlm.nih.gov]

• Coarse Face

  Skin Laxity, with or without Metabolic Abnormalities Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism Mental Retardation, Microcephaly, Epilepsy, and Coarse [rgd.mcw.edu]

• Paresis

  […] muscle atrophy Muscle weakness Protruding ear Chorioretinal lacunae Falciform retinal fold Chorioretinal dysplasia Abnormal dermatoglyphics Exotropia Sparse and thin eyebrow Hyperhidrosis Asymmetric septal hypertrophy Mucopolysacchariduria Vocal cord paresis [mendelian.co]

  Polyglucosan body disease, adult form 263570 GCDH 19p13.2 Glutaricaciduria, type I 231670 GCSH 16q23.2 Glycine encephalopathy 605899 GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, type 2K 607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis [institutobernabeu.com]

  Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy Spastic Paresis [rgd.mcw.edu]

• Poor or Absent Speech

  Speech is poor and sometimes absent. Behavioral anomalies such as aggression and features of autism have been reported. [disorders.eyes.arizona.edu]

• Myelopathy

  Effect of repetitive transcranial magnetic stimulation on reducing spasticity in patients suffering from HTLV-1-associated myelopathy Authors: Amiri, M. - Nafissi, S. - Jamal-Omidi, S. - Amiri, M. - Fatehi, F. - Journal of Clinical Neurophysiology, Vol [tums.ac.ir]

Treatment Treatment Options: No specific treatment is available for this condition although physical therapy and cataract surgery might be considered in specific individuals. [disorders.eyes.arizona.edu]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment of Kabuki Syndrome: There is no specific treatment for Kabuki syndrome. Instead, treatment is applied to ameliorate specific symptoms in each individual. Treatment may require the coordinated efforts of a team of specialists. [kennedykrieger.org]

Diagnosis and Prognosis: There is no treatment for this disorder although it would be expected that physical therapy might be helpful for the contractures. It is unknown if surgery for the cataracts would be helpful. [disorders.eyes.arizona.edu]

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis. Salud Pública México. 2008;50(S2):s132-41. doi: 10.1590/S0036-36342008000800005. [ Links ] 11. Maenner MJ. [scielo.org.pe]

Abnormality of the musculoskeletal system Elbow flexion contracture Knee flexion contracture Thoracic kyphosis Abnormality of the nervous system Intellectual disability, progressive Intellectual disability, severe Motor delay Neoplasm Capillary hemangioma Etiology [ncbi.nlm.nih.gov]

Genetic etiology of hearing loss in Iran. Hum Genet. 2022;141 (3-4):623-631. doi: 10.1007/s00439-021-02421-w. PubMed PMID:35050400. Nair, D, Li, D, Erdogan, H, Yoon, A, Harr, MH, Bergant, G et al.. [mcgillgenomecentre.ca]

Deafness On The Island Of Providencia - Colombia: Different Etiology, Different Genetic Counseling". 2008;19(4):403-12. https://bit.ly/2fTFxZX [email protected] 2008 RODRÍGUEZ-BALLESTEROS M, REYNOSO R, OLARTE M, VILLAMAR M, MORERA C, SANTARELLI [javeriana.edu.co]

Study of the Etiology of Deafness in an Institutionalized Population in Colombia. Am J Med Genet. 1992;44:405-8. 4. Tamayo ML, Bernal JE, Tamayo GE, Frias JL, Alvira G, Vergara O, et al. Usher syndrome: results of a screening program in Colombia. [revistamedicina.net]

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017 Jun;38(6):621-636. [disorders.eyes.arizona.edu]

This new edition contains several chapters on the associated problems of autism, such as intellectual disability, epilepsy, tics, eating disorders and sleep problems, as well as a chapter on epidemiology that documents the historical increase in autism [books.google.de]

Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Transl Pediatr. 2020;9(Suppl 1):S55-65. doi: 10.21037/tp.2019.09.09. [ Links ] 5. Cohen P, Rogol AD, Deal CL, Saenger P, Reiter EO, Ross JL, et al. [scielo.org.pe]

Genetic epidemiology of hearing impairment. [jmg.bmj.com]

Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, et al: Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet 132A:352-360 (2005). [karger.com]

Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders. [books.google.it]

However, more work is needed to pinpoint the exact function of MAN1B1 in glycoprotein quality control, and to understand the pathophysiology of its deficiency. metadata References Jaeken Jaak, Matthijs Gert, Congenital Disorders of Glycosylation: A Rapidly [dial.uclouvain.be]

Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1. [reumaped.es]

▲ Kahnate of the Crimea Kahnawake Center for Research and Training in Diabetes Prevention Kahnawake Fire Brigade Kahnawake Schools Diabetes Prevention Project Kahneman, Daniel KAHO Kaho Na Pyaar Hai Kaho'olawe Kaho'olawe Kaho'olawe Kaho'olawe Island Reserve [medical-dictionary.thefreedictionary.com]

GRC’s objective is identification, diagnosis, and prevention of common genetic diseases in Iran. [genetics.uswr.ac.ir]

[…] from Musculoskeletal Pains Volume 2, Issue 3, Summer 2017, Page 271-272 Ali Ghanjal Show Article | PDF (186 K) 9 Alexander Technique for Preventing and Improving Low Back Pain Volume 2, Issue 4, Autumn 2017, Page 313-316 Tahereh kamalikhah Show Article [ijmpp-old.modares.ac.ir]

Guidelines for case classification for the National Birth Defects Prevention Study. Birt Defects Res A Clin Mol Teratol. 2003;67(3):193-201. doi: 10.1002/bdra.10012. [ Links ] 7. Willemsen MH, Kleefstra T. [scielo.org.pe]

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments. Sci Rep. 2018;8:1968. https://doi.org/10.1038/s41598-018-20171-0 Orejas J, Rico J. Hipoacusia: identificación e intervención precoces. [revistabiomedica.org]