4123
(4.0%)

familial hemophagocytic lymphohistiocytosis type 1
----
細網症, 家族性組織球性

被刺激性

常染色体劣性遺伝

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial DNA depletion syndrome 9
----
ミトコンドリアDNA枯渇症候群9 (脳筋症型, メチル化尿症を伴う)

難聴

常染色体劣性遺伝

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.  >> 翻訳 (Google)

4123
(4.0%)

spinocerebellar ataxia type 1
----
脊髄小脳失調症 1 (SCA1)

緩徐なサッカード性眼球運動

常染色体優性遺伝 Genetic anticipation with paternal anticipation bias

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.  >> 翻訳 (Google)

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 1
----
ミトコンドリア複合体 III 欠損症, 核型1

難聴

常染色体劣性遺伝 ミトコンドリア遺伝

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.  >> 翻訳 (Google)

4123
(4.0%)

congenital alveolar capillary dysplasia
----
肺胞毛細血管異形成-肺静脈異常

水尿管症

常染色体優性遺伝

Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.  >> 翻訳 (Google)

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis 2
----
血球貪食性リンパ組織球症, 家族性, 2 (HPLH2)

被刺激性

常染色体劣性遺伝

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.  >> 翻訳 (Google)