Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Intellectual Disability–Coarse Face–Macrocephaly–Cerebellar Hypoplasia Syndrome
Intellectual disability–coarse face–macrocephaly–cerebellar hypoplasia syndrome is an ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Cerebelloparenchymal Disorder III (CPD III)
Cerebelloparenchymal disorder III (CPD III) is a rare, inherited brain condition that ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Intellectual Disability Syndrome Due to Run and Cysteine Rich Domain Containing Beclin 1 Interacting Protein Deficiency
Intellectual Disability Syndrome Due to Run and Cysteine Rich Domain Containing Beclin 1 ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Spastic Paraplegia Type 76 (SPG76)
Autosomal recessive spastic paraplegia type 76—often shortened to SPG76—is a rare ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Spastic Paraplegia type 71 (SPG71)
Autosomal Recessive Spastic Paraplegia type 71 (SPG71) is a very rare, inherited nerve ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Spastic Paraplegia Type 70 (SPG70)
Autosomal recessive spastic paraplegia type 70 (SPG70) is a very rare, infant-onset form ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Spastic Paraplegia Type 69 (SPG69)
Autosomal recessive spastic paraplegia type 69 (SPG69) is a rare, inherited neurological ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Spastic Paraplegia Type 67 (SPG67)
Autosomal Recessive Spastic Paraplegia type 67 (SPG67) is a very rare, inherited nerve ...
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Autosomal Recessive Spastic Paraplegia Type 66 (SPG66)
Autosomal recessive spastic paraplegia type 66 (SPG66) is a rare, inherited neurological ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Spastic Paraplegia Type 60 (SPG60)
Autosomal Recessive Spastic Paraplegia type 60 (SPG60) is a very rare genetic nerve ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Spastic Paraplegia Type 59 (SPG59)
Autosomal recessive spastic paraplegia type 59 (SPG59) is a very rare inherited nerve ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Sideroblastic Anemia (AR-CSA)
Autosomal recessive sideroblastic anemia (AR-CSA) is an inherited blood disease where the ...
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Severe Congenital Neutropenia 6 (SCN6)
Severe Congenital Neutropenia 6 (SCN6) is a rare, inherited immune disorder present from ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Autosomal Recessive Severe Congenital Neutropenia due to JAGN1 Deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, ...
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Superficial Venous Angiectasis Syndrome
Superficial venous angiectasis describes abnormally widened (ectatic) small veins and ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Severe Congenital Neutropenia–Pulmonary Hypertension–Superficial Venous Angiectasis Syndrome
Severe Congenital Neutropenia–Pulmonary Hypertension–Superficial Venous Angiectasis ...
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Severe Congenital Neutropenia Type 4 (SCN4)
Severe congenital neutropenia type 4 is a rare, inherited immune disorder. Babies are ...
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Autosomal Recessive Severe Congenital Neutropenia due to Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic ...
