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| created at |
2017-12-21 11:07:44 UTC |
| updated at |
2017-12-22 12:31:05 UTC |
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2 layers
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520,470 entries
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There is 0 pattern entry.
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Renal ectopia (rare)
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DISO:OMIM |
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MRT9
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DISO:OMIM |
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9
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DISO:OMIM |
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9
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DISO:MTH |
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MRT26
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DISO:OMIM |
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Mental Retardation, Autosomal Recessive 9
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DISO:MSH |
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26
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DISO:OMIM |
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Deafness, profound, by 6th decade
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DISO:OMIM |
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Average onset 6-10 months (range 3-24)
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DISO:OMIM |
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Absent platelet aggregation response to epinephrine
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DISO:OMIM |
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Distal upper limb involvement may occur later
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DISO:OMIM |
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Thrombocytopenia (birth)
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DISO:OMIM |
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Histopathology shows rosettes of immature retinal cells in vascular connective tissue
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DISO:OMIM |
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Onset of hearing loss prior to or during adolescence
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DISO:OMIM |
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Spermatozoa Abnormal Head | Semen
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DISO:LNC |
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