Intellectual disability–coarse face–macrocephaly–cerebellar hypoplasia syndrome is an ultra-rare, likely genetic brain-development disorder. Children have moderate to severe intellectual disability, ...
Cerebelloparenchymal disorder III (CPD III) is a rare, inherited brain condition that mainly affects the cerebellum, the part of the brain that controls balance, speech rhythm, eye movements, and ...
Intellectual Disability Syndrome Due to Run and Cysteine Rich Domain Containing Beclin 1 Interacting Protein Deficiency is a very rare, inherited brain disorder. It follows an autosomal recessive ...
Autosomal recessive spastic paraplegia type 76—often shortened to SPG76—is a rare inherited nerve disorder. It mainly affects the long motor pathways that run from the brain down the spinal cord to ...
Autosomal Recessive Spastic Paraplegia type 71 (SPG71) is a very rare, inherited nerve condition. It mainly stiffens and weakens the leg muscles (spastic paraparesis). It usually begins in infancy. ...
Autosomal recessive spastic paraplegia type 70 (SPG70) is a very rare, infant-onset form of hereditary spastic paraplegia caused by pathogenic variants in MARS1 (methionyl-tRNA synthetase 1). Core ...
Autosomal recessive spastic paraplegia type 69 (SPG69) is a rare, inherited neurological disease in the hereditary spastic paraplegia (HSP) family. HSPs are disorders where the main problem is ...
Autosomal Recessive Spastic Paraplegia type 67 (SPG67) is a very rare, inherited nerve disease. It mainly makes the legs stiff and weak over time. Doctors call this “spastic paraplegia.” Children ...
Autosomal recessive spastic paraplegia type 66 (SPG66) is a rare, inherited neurological disorder in the large family of hereditary spastic paraplegias (HSPs). Children usually show signs very early ...
Autosomal Recessive Spastic Paraplegia type 60 (SPG60) is a very rare genetic nerve disorder. It mainly affects the long nerve tracts that run from the brain down the spinal cord to the legs (the ...
Autosomal recessive spastic paraplegia type 59 (SPG59) is a very rare inherited nerve disease. It mainly affects the long nerves that carry movement signals from the brain to the legs. These long ...
Autosomal recessive sideroblastic anemia (AR-CSA) is an inherited blood disease where the bone marrow makes red blood cells that cannot use iron properly. The unused iron builds up in tiny pockets ...
Severe Congenital Neutropenia 6 (SCN6) is a rare, inherited immune disorder present from birth. The white blood cells called neutrophils—which fight bacteria and fungi—are very low in number most of ...
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, inherited immune disorder. Babies are born with very low numbers of neutrophils (a type of white blood cell that ...
Superficial venous angiectasis describes abnormally widened (ectatic) small veins and venules close to the skin surface. You can see them as thin red-blue lines, “spider veins,” or bluish clusters. ...
Severe Congenital Neutropenia–Pulmonary Hypertension–Superficial Venous Angiectasis Syndrome are born baby with very low neutrophils (a key white blood cell), and who also show small surface ...
Severe congenital neutropenia type 4 is a rare, inherited immune disorder. Babies are born with very low numbers of neutrophils, which are white blood cells that fight germs. The shortage is present ...
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a rare, inherited condition. A baby is born with very low numbers of a ...
Autosomal Recessive Severe Congenital Neutropenia (SCN) due to G6PC3 Deficiency is a genetic condition present from birth that causes very low numbers of neutrophils, the white blood cells that fight ...
Autosomal recessive severe congenital neutropenia (SCN) due to C-X-C motif chemokine receptor 2 (CXCR2) deficiency is a very rare, inherited immune disorder. Babies are born with very low neutrophil ...
