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疾病英文名:SRXY1 - 46,xy Sex Reversal 1 疾病分类:罕见病 骨骼肌类疾病 肿瘤类疾病 其他别名:46,xy Gonadal Dysgenesis, Co…
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毛发-甲-骨发育不良,也称为前额-顶区骨缺损伴毛发-甲-骨发育不良和7号低毛症相关。附属组织包括皮肤和骨骼。 Trichoodontoonychial Dysplasia
Charcot-Marie-Tooth Disease, Axonal, Type 2x,也被称为Charcot-Marie-Tooth病轴突型2x。与Charcot-Marie-Tooth Disease, Axonal, Type 2x相关的基因是SPG11(SPG11 Vesicle Trafficking Associated, Spatacsin)。相关组织包括周围神经,相关表型包括震颤和脊柱侧弯。 CMT2X – Charcot-Marie-Tooth Disease, Axonal, Type 2x
Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes, also known as spondyloepimetaphyseal dysplasia, pakistani type, is related to brachyolmia type 1, hobaek type and coxa vara. An important gene associated with Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes is PAPSS2 (3′-Phosphoadenosine 5′-Phosphosulfate Synthase 2). Affiliated tissues include bone, and related phenotypes are short stature and acne. BCYM4 – Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes
先天性肌营养不良伴重度中枢神经系统萎缩和大髓鞘纤维缺失 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
先天性良性脊髓性肌萎缩显性 Congenital Benign Spinal Muscular Atrophy Dominant