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10 Possible Causes for Based on 3 Patients from 2 Families

  • Ruijs Aalfs Syndrome

    Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related Symptom Articles Triangular face : Summary Facial contour, as[…][familydiagnosis.com]

  • Hypogonadotropic Hypogonadism

    RESULTS: In 3 patients from 2 independent families we identified GNRH1 mutations.[ncbi.nlm.nih.gov] In the proband from family 1, a homozygous 1-base deletion (c.87delA) leading to a frameshift mutation (p.G29GfsX12) was identified.[ncbi.nlm.nih.gov]

  • Facial Granuloma

    Curettage required fewer treatments overall than cryotherapy ( P Evidence-based answers from the Family Physicians Inquiries Network[mdedge.com] Twenty-five of 40 pyogenic granulomas (63%) responded to 1 cryotherapy treatment, 13 lesions (32%) resolved after 2 treatments, and 2 (5%) resolved after 3 treatments; 17[mdedge.com] […] of the 40 patients (42.5%) had a residual scar.[mdedge.com]

  • Overhydrated Hereditary Stomatocytosis

    Design and Methods Blood samples were collected from 4 French patients (3 males and one female) from three different families 2 carrying the Phe65Ser mutation in RhAG, and[haematologica.org] OHSt patients in order to fully characterize the metabolic bases of this disease.[haematologica.org] […] the extraction and global mass spectrometry-based analyses of metabolites from purified human RBCs. 8 Here we use this strategy to distinguish metabolic changes in RBCs from[haematologica.org]

  • Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

    Clinical experience based on 22 patients from 18 Spanish families. Medicine ( Baltimore ) 2001; 80(2): 102-112. 3.[bjmg.edu.mk]

  • Early-Onset Spastic Ataxia - Neuropathy Syndrome

    After mapping and identification of the gene in patients with ARSACS, non-Quebecois families with ARSACS have been reported from Italy [ 3 ], Tunisia [ 4 ], Turkey [ 5 ],[jneuro.com] SACS gene, mapping to chromosome 13q11, consists of a single large exon spanning 12,794 base pairs encoding the sacsin protein [ 2 ].[jneuro.com]

  • Autosomal Recessive Spastic Ataxia Type Charlevoix-Saguenay

    After mapping and identification of the gene in patients with ARSACS, non-Quebecois families with ARSACS have been reported from Italy [ 3 ], Tunisia [ 4 ], Turkey [ 5 ],[jneuro.com] SACS gene, mapping to chromosome 13q11, consists of a single large exon spanning 12,794 base pairs encoding the sacsin protein [ 2 ].[jneuro.com]

  • Perrault Syndrome 3

    Table 2. Indicates the neurological implications of CLPP mutations in our patients (family 1–3) and earlier reported CLPP cases (family 4–10).[frontiersin.org] Our patients, who were all males, suffered from heterogeneous manifestations, involving congenital sensorineural hearing loss (SNHL), psychomotor retardation, ataxia, autism[frontiersin.org] […] deletions can be responsible for a substantial part of the inherited CLPP defects and that one should be aware that these mutations could be missed in purely sequencing-based[frontiersin.org]

  • Perrault Syndrome Type 4

    Table 2. Indicates the neurological implications of CLPP mutations in our patients (family 1–3) and earlier reported CLPP cases (family 4–10) .[frontiersin.org] Our patients, who were all males, suffered from heterogeneous manifestations, involving congenital sensorineural hearing loss (SNHL), psychomotor retardation, ataxia, autism[frontiersin.org] […] deletions can be responsible for a substantial part of the inherited CLPP defects and that one should be aware that these mutations could be missed in purely sequencing-based[frontiersin.org]

  • Perrault Syndrome Type 2

    Table 2. Indicates the neurological implications of CLPP mutations in our patients (family 1–3) and earlier reported CLPP cases (family 4–10).[frontiersin.org] Our patients, who were all males, suffered from heterogeneous manifestations, involving congenital sensorineural hearing loss (SNHL), psychomotor retardation, ataxia, autism[frontiersin.org] […] deletions can be responsible for a substantial part of the inherited CLPP defects and that one should be aware that these mutations could be missed in purely sequencing-based[frontiersin.org]

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