Autosomal recessive cutis laxa (ARCL) is a rare genetic disorder where the body’s elastic fibers—tiny stretchy cables that keep skin, lungs, blood vessels, and ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal recessive cutis laxa type 1 (ARCL1) is a rare, inherited connective-tissue disorder. Babies or young children develop very loose, sagging, and ...
Autosomal recessive congenital non-lamellar and non-erythrodermic ichthyosis are rare genetic skin conditions present from birth. The skin makes too much thick ...
Autosomal recessive ichthyosis with hypotrichosis is a very rare inherited skin-and-hair condition. Babies are born with ichthyosis (dry, thick, scaly skin) ...
Autosomal recessive congenital ichthyosis 11 is a rare, inherited skin disease. It starts at birth or early infancy. The skin makes too much scale and does not ...
Ichthyosis Congenital Autosomal Recessive 1, with or without Bathing Suit Distribution is a lifelong inherited skin condition. Babies are usually born with ...
Autosomal Recessive Congenital Ichthyosis 1—often shortened to ARCI-1—is a rare, inherited skin disease that starts at birth or in early life. “Autosomal ...
Autosomal recessive spastic paraplegia type 9B (SPG9B) is a rare inherited nerve condition. It mainly stiffens (spasticity) and weakens the legs, so walking ...
ALDH18A1-related complex spastic paraplegia is a rare inherited nerve disease. It mainly makes the legs stiff and weak over time (this is called “spastic ...
ALDH18A1-related autosomal recessive complex spastic paraplegia is a rare inherited nerve disease. It mainly affects the long nerve fibers that run from the ...
Autosomal recessive complex spastic paraplegia type 9B (SPG9B) is a rare, inherited brain and nerve disease. It starts in childhood. The main sign is stiff, ...
Autosomal recessive complex spastic paraplegia (SPG) due to Kennedy pathway dysfunction is a rare, inherited brain and spinal-cord disorder. “Spastic ...
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction is a genetic, childhood- or teen-onset nerve disease. “Autosomal recessive” ...
Autosomal recessive cerebral atrophy is a rare, inherited (autosomal recessive) neurodegenerative condition in which the cerebral cortex and its white matter ...
Autosomal recessive cerebellar ataxias (ARCAs) are a large family of rare, inherited brain disorders where both parents silently carry one faulty gene copy and ...
Autosomal recessive cerebellar ataxia–saccadic intrusion syndrome is a rare, inherited movement disorder. “Autosomal recessive” means a person must receive one ...
SCAR3 Spinocerebellar Ataxia Autosomal Recessive Type 3 is a rare inherited brain disorder that mainly affects the cerebellum (the balance and coordination ...
Autosomal recessive spinocerebellar ataxia–blindness–hearing-loss syndrome is a rare genetic brain-nerve disorder. Children usually start life looking healthy, ...
Autosomal recessive spinocerebellar ataxia type 3 (SCAR3/SCABD) is a rare, inherited brain and nerve disorder that starts in childhood. It mainly affects the ...
Autosomal recessive cerebellar ataxia–blindness–deafness syndrome (AR-CABDS) is a very rare inherited (genetic) brain and sensory disorder. Children usually ...
