Phenotypes for disease #01931 (ML3C (mucolipidosis, type III, gamma (ML-3C)), OMIM:252605)

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0000129958 First symptom: abnormal flexion of wrist - ML III gamma Familial, autosomal recessive 10y 10y - - - Renata Voltolini Velho 00165086
0000129959 Height: 170 cm BMI: 22 kg/m2 Cognitive impairment: yes, mild (special needs education) - ML III gamma Familial, autosomal recessive 08y00m 08y00m - - - Renata Voltolini Velho 00165087
0000129961 7 year-old Chilean boy First child of non-consanguineous parents with no family history of genetic diseases. Pregnancy and delivery were uneventful. Inguinal hernioplasty surgery at 6 months Delayed in reaching motor milestones At 6 years of age he presented joint stiffness of the fingers, shoulders and hips and mild intellectual disability. Skeletal radiography showed mild dysostosis multiplex: hypoplastic iliac bones and slanting acetabular roofs. Shortening of the tubular bones of the hands. Lumbar vertebral bodies with shortened anteroposterior diameter and anterosuperior hypoplasia. Skull and ribs were normal Brain MRI was normal Ocular, hearing and cardiac evaluation was normal No visceromegaly was present No coarse facial features MPS ML III gamma Familial, autosomal recessive 07y00m 07y00m 06y00m - - Renata Voltolini Velho 00165088
0000129962 - - - Familial, autosomal recessive 16y 16y - - - Renata Voltolini Velho 00165089
0000129963 Occurrence in an extended family of autosomal recessive spondyloepiphyseal dysplasia (SED) and retinitis pigmentosa (RP). Individual family members initially presented with spondyloepiphyseal dysplasia leading to multiple surgeries in the third to sixth decade. It was later determined that a retinitis pigmentosa phenotype, presenting in the third and fourth decades with decreased night vision and leading to significant peripheral and central vision loss or blindness by the fifth to seventh decade, co-segregated with the SED phenotype. Additionally, affected individuals had a high incidence of corneal abnormalities. - ML III gamma Familial, autosomal recessive - - - - - Renata Voltolini Velho 00165090
0000129964 First symptom: Scoliosis - ML III gamma Familial, autosomal recessive 10y 10y 08y00m - - Renata Voltolini Velho 00165091
0000129965 The proband, a female born at term to young (maternal and paternal age at conception was 27 years old) and non-consanguineous parents was referred for clinical genetic evaluation due to large joint contractures. On physical examination, the patient presented contractures and restrictions of movement, especially in the hands, feet and shoulders, and heart systolic murmur, audible mainly at the left sternal border. The two-dimensional color Doppler echocardiography revealed the presence of mild thickening of aortic valve leaflets with mild regurgitation. All other clinical parameters were within normal limits for the patient's age. The exam was performed through the subcostal window, as thoracic deformity prevented the use of standard echocardiographic measures of pulmonary artery systolic pressure. Electroneuromyography of the upper limb was normal, and showed no electrophysiological evidence of peripheral neuropathy. The somatosensory evoked potential of the upper and lower limbs was also normal. The patient was diagnosed as having ML III when she was 8 years old, and is currently stable. - ML III gamma Familial, autosomal recessive 08y 08y - - - Renata Voltolini Velho 00165092
0000130001 Patient A, male, is the third sibling from non-consanguineous parents. First symptoms started at the age of 10 years (claw hands). He developed disabling hip pain because of Legg–Calvé–Perthes disease, and prostheses were inserted bilaterally at 34 and 36 years of age. An umbilical hernia was repaired at the age of 37 years, and severe carpal tunnel syndrome was corrected by wrist surgery at the age of 40 years. At the last visit, he was 42 years old and currently working on the family farm, having no complaints or difficulties in his daily tasks. He did not finish high school but does not appear to have cognitive impairment. A physical exam showed mild coarse facial features, systolic murmur, no organomegaly, claw hands and severe joint contractures of the shoulders, elbows and knees. In addition to these symptoms, he had some difficulty in moving the right leg because of an external rotation of the knee. On echocardiography he had supravalvular aortic stenosis, minimal physiological mitral regurgitation, mild tricuspid regurgitation and systolic pulmonary artery pressure at 29mm Hg, without other alterations. The neurological exam was normal. A polysomnography was performed and showed mild apnea hypopnea index (11.5). Patient B, male, second sibling from non-consanguineous parents, was diagnosed at the age of 38 years, after the ML III diagnosis of his brother (patient A). Claw hands and shoulder contractures were noted since adolescence. He developed disabling hip pain because of Legg–Calvé–Perthes disease, and prostheses were inserted bilaterally at 38 and 40 years of age, respectively. At his last visit, he was 44 years old and currently working on the family farm, without complaints or difficulties in his tasks. Similar to his brother, he did not finish high school but does not appear to have cognitive impairment. A physical exam showed coarse facial features (even milder than patient A) and mild joint restrictions in the hands, elbow, shoulder and knees. The neurological exam was normal. The echocardiogram and polysomnography were normal. - ML III gamma Familial, autosomal recessive 42y 34y05m 10y - - Renata Voltolini Velho 00165104
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