a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
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マルファン症候群
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a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
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神経線維腫症
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genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
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ヌーナン症候群
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a genetic disorder with symptoms like insatiable appetite, obesity, intellectual disability, and developmental delays caused by gene deletion or loss of function on chromosome 15
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プラダー・ウィリ症候群
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a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
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レット症候群
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a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
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テイサックス病
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a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
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サラセミア
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a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
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トウレット症候群
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a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
![白皮症](https://api.langeek.co/v1/assets/flags/ja.png)
白皮症
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a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
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エンジェルマン症候群
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a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
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強直性脊椎炎
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a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
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アペール症候群
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a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
![シャルコー・マリー・トゥース病](https://api.langeek.co/v1/assets/flags/ja.png)
シャルコー・マリー・トゥース病
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a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
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先天性副腎過形成
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a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
![嚢胞性線維症](https://api.langeek.co/v1/assets/flags/ja.png)
嚢胞性線維症
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a genetic condition caused by the presence of an extra copy of chromosome 21, leading to intellectual disabilities, distinct facial features, and potential health issues
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ダウン症
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a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
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エーラス・ダンロス症候群
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a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
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ファブリー病
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a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
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脆弱X症候群
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a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
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血友病
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a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
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ヘモクロマトーシス
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a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
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クラインフェルター症候群
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a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
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ターナー症候群
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a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
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フォン・ヴィレブランド病
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a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
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ウィリアムズ症候群
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a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
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ハンチントン病
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a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
![鎌状赤血球症](https://api.langeek.co/v1/assets/flags/ja.png)
鎌状赤血球症
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