X-linked hypophosphatemia | About the Disease | GARD - Genetic …
X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets).
Syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability Claes-Jensen type is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Mucopolysaccharidosis | About the Disease | GARD - Genetic and …
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system ...
Epilepsy, x-linked 1, with variable learning disabilities and behavior ...
X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I …
Intellectual disability, x-linked, with or without seizures, arx ...
Intellectual disability, x-linked, with or without seizures, arx-related is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
X-linked intellectual disability-craniofacioskeletal syndrome
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males.
X-linked parkinsonism-spasticity syndrome | About the Disease
X-linked parkinsonism-spasticity syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Achondroplasia | About the Disease | GARD - Genetic and Rare …
Achondroplasia is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
X-linked microcephaly-growth retardation-prognathism …
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears ...