Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain-containing oxidoreductase) deficiency is a rare, inherited brain disorder that starts very ...
Autosomal Recessive Cerebellar Ataxia–Epilepsy–Intellectual Disability Syndrome due to WWOX Deficiency is a rare, inherited brain disorder. A baby is born with two faulty copies of a gene called ...
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by WWOX mutation is a rare, inherited brain and nerve disorder caused by harmful changes (variants) in a single ...
Autosomal recessive spinocerebellar ataxia 12 (SCAR12) is a very rare, inherited brain disorder. Children with SCAR12 usually start having generalized seizures in infancy, followed by delayed motor ...
Autosomal recessive cerebellar ataxia–psychomotor delay syndrome is a rare, inherited brain disorder. “Autosomal recessive” means a child gets one faulty gene from each parent. Parents are usually ...
Autosomal recessive severe congenital neutropenia (SCN) due to CSF3R deficiency is a very rare, inherited immune disorder. Babies are born with very low neutrophils (a type of white blood cell that ...
ROR2-related Robinow syndrome is a rare genetic condition present from birth. It mainly affects bone growth, the face, the spine, the arms and legs, the teeth, and the external genitals. Children are ...
Robinow syndrome is a rare genetic condition that changes how the skeleton and some organs grow. It mainly affects the bones of the arms and legs, the face, the spine and ribs, the teeth and mouth, ...
Autosomal recessive Robinow syndrome is a very rare genetic condition that changes how bones, the face, spine, ribs, genitals, and sometimes the heart and kidneys form before birth. It happens when a ...
Autosomal recessive progressive external ophthalmoplegia is a rare, inherited mitochondrial muscle disease. “External ophthalmoplegia” means the eye-moving muscles slowly become weak, so the eyelids ...
Autosomal recessive primary microcephaly is a genetic condition where a baby is born with a head size that is much smaller than expected for age and sex. The small head reflects a smaller brain, ...
Immunodeficiency type 20 is a rare, inherited immune disorder. It affects a group of white blood cells called natural killer (NK) cells. People with this condition have NK cells that do not kill ...
Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Natural Killer (NK) Cell Cytotoxicity is a genetic immune disorder that runs in families in an autosomal recessive way. That ...
Autosomal recessive infantile polycystic kidney disease—most often called ARPKD—is a rare genetic condition. It usually shows up before birth or in the first months of life. Tiny fluid-filled spaces ...
Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited condition in which a baby is born with very small, fluid-filled sacs (micro-cysts) spread throughout the kidneys. These ...
Autosomal recessive Parkinson disease type 14 is a rare inherited form of Parkinsonism. It usually starts in childhood, teenage years, or early adulthood. The main features are stiffness, slowness, ...
Autosomal recessive Parkinson disease 14 is a rare, inherited form of early-onset parkinsonism caused by harmful changes (variants) in a gene called PLA2G6. People usually develop symptoms in ...
Cataract-alopecia-sclerodactyly (CAS) syndrome is a very rare inherited skin–eye–hand condition. Babies are usually born with little or no hair (alopecia). They also have cloudy lenses in both eyes ...
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia is a very rare, inherited skin and hair disorder. “Autosomal recessive” means a child gets one faulty gene from each parent. ...
Autosomal recessive palmoplantar keratoderma and congenital alopecia (often shortened to PPK-CA, recessive type / PPKCA2) is a very rare inherited skin disorder. Babies are typically born with little ...
