Phenotypes for disease #05446 (ML (mucolipidosis (ML)))

10 entries on 1 page. Showing entries 1 - 10.
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AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Phenotype details     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000130028 mucolipidosis ML-3C see paper; ..., no family history, Familial, autosomal recessive - 07y - - - Renata Voltolini Velho 00165131
0000130061 mucolipidosis ML-3C see paper; ..., family history, Familial, autosomal recessive - - - - - Johan den Dunnen 00165185
0000130068 mucolipidosis ML-3C see paper; ..., no family history, Familial, autosomal recessive - - - - - Johan den Dunnen 00165186
0000130069 mucolipidosis ML-3C see paper; ..., family history, Familial, autosomal recessive - - - - - Johan den Dunnen 00165187
0000130070 mucolipidosis ML-3C see paper; ..., family history, Familial, autosomal recessive - - - - - Johan den Dunnen 00165188
0000130071 mucolipidosis ML-3C see paper; ..., family history, Familial, autosomal recessive - - - - - Johan den Dunnen 00165189
0000130072 mucolipidosis ML-3C see paper; ..., family history, Familial, autosomal recessive - - - - - Johan den Dunnen 00165190
0000130073 mucolipidosis ML-3C see paper; ..., family history, Familial, autosomal recessive - - - - - Johan den Dunnen 00165191
0000185026 mucolipidosis ML-3C weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence Familial, autosomal recessive 11y - - thickened finger joints - Johan den Dunnen 00245068
0000185027 mucolipidosis ML-3C weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence; hyperopia, astigmatism Familial, autosomal recessive 12y - - thickened finger joints - Johan den Dunnen 00245069
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