Autosomal Recessive Cerebellar Ataxia–Epilepsy–Intellectual Disability Syndrome due to WWOX Deficiency is a rare, inherited brain disorder. A baby is born with ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by WWOX mutation is a rare, inherited brain and nerve disorder caused by ...
Autosomal recessive spinocerebellar ataxia 12 (SCAR12) is a very rare, inherited brain disorder. Children with SCAR12 usually start having generalized seizures ...
Autosomal recessive cerebellar ataxia–psychomotor delay syndrome is a rare, inherited brain disorder. “Autosomal recessive” means a child gets one faulty gene ...
Autosomal recessive severe congenital neutropenia (SCN) due to CSF3R deficiency is a very rare, inherited immune disorder. Babies are born with very low ...
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, ...
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, ...
Autosomal recessive Robinow syndrome is a very rare genetic condition that changes how bones, the face, spine, ribs, genitals, and sometimes the heart and ...
Autosomal recessive progressive external ophthalmoplegia is a rare, inherited mitochondrial muscle disease. “External ophthalmoplegia” means the eye-moving ...
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 ...
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 ...
Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Natural Killer (NK) Cell Cytotoxicity is a genetic immune disorder that runs in ...
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 ...
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) ...
Autosomal recessive Parkinson disease type 14 is a rare inherited form of Parkinsonism. It usually starts in childhood, teenage years, or early adulthood. The ...
Autosomal recessive Parkinson disease 14 is a rare, inherited form of early-onset parkinsonism caused by harmful changes (variants) in a gene called PLA2G6. ...
Cataract-alopecia-sclerodactyly (CAS) syndrome is a very rare inherited skin–eye–hand condition. Babies are usually born with little or no hair (alopecia). ...
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia is a very rare, inherited skin and hair disorder. “Autosomal recessive” means a child ...
Autosomal recessive palmoplantar keratoderma and congenital alopecia (often shortened to PPK-CA, recessive type / PPKCA2) is a very rare inherited skin ...
TNFRSF11A-related autosomal recessive osteopetrosis is a rare genetic bone disease. It happens when a child inherits two faulty copies of the TNFRSF11A gene, ...
