Autosomal recessive cutis laxa, pulmonary emphysema type 1 (ARCL1) is a rare inherited connective-tissue disorder. Babies or young children have very loose, saggy skin that does not spring back. ...
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 other organs springy—do not form or ...
Autosomal recessive cutis laxa type 1 (ARCL1) is a rare, inherited connective-tissue disorder. Babies or young children develop very loose, sagging, and inelastic skin (called “cutis laxa”). But it ...
Autosomal recessive congenital non-lamellar and non-erythrodermic ichthyosis are rare genetic skin conditions present from birth. The skin makes too much thick outer layer (stratum corneum). This ...
Autosomal recessive ichthyosis with hypotrichosis is a very rare inherited skin-and-hair condition. Babies are born with ichthyosis (dry, thick, scaly skin) and later have hypotrichosis (very sparse ...
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 shed normally. Many patients also grow ...
Ichthyosis Congenital Autosomal Recessive 1, with or without Bathing Suit Distribution is a lifelong inherited skin condition. Babies are usually born with tight, shiny skin (“collodion baby”). As ...
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 recessive” means a child gets one non-working ...
Autosomal recessive spastic paraplegia type 9B (SPG9B) is a rare inherited nerve condition. It mainly stiffens (spasticity) and weakens the legs, so walking becomes hard and unsteady. It often starts ...
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 paraplegia”). “Complex” means there are extra ...
ALDH18A1-related autosomal recessive complex spastic paraplegia is a rare inherited nerve disease. It mainly affects the long nerve fibers that run from the brain to the legs. Over time, these fibers ...
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, tight leg muscles (spasticity) that slowly ...
Autosomal recessive complex spastic paraplegia (SPG) due to Kennedy pathway dysfunction is a rare, inherited brain and spinal-cord disorder. “Spastic paraplegia” means stiff, tight, and weak muscles ...
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction is a genetic, childhood- or teen-onset nerve disease. “Autosomal recessive” means a child gets one faulty copy of the ...
Autosomal recessive cerebral atrophy is a rare, inherited (autosomal recessive) neurodegenerative condition in which the cerebral cortex and its white matter gradually shrink (atrophy), often ...
Autosomal recessive cerebellar ataxias (ARCAs) are a large family of rare, inherited brain disorders where both parents silently carry one faulty gene copy and a child receives both copies. The main ...
Autosomal recessive cerebellar ataxia–saccadic intrusion syndrome is a rare, inherited movement disorder. “Autosomal recessive” means a person must receive one faulty gene from each parent to be ...
SCAR3 Spinocerebellar Ataxia Autosomal Recessive Type 3 is a rare inherited brain disorder that mainly affects the cerebellum (the balance and coordination center), and also damages the hearing and ...
Autosomal recessive spinocerebellar ataxia–blindness–hearing-loss syndrome is a rare genetic brain-nerve disorder. Children usually start life looking healthy, then develop problems with balance and ...
Autosomal recessive spinocerebellar ataxia type 3 (SCAR3/SCABD) is a rare, inherited brain and nerve disorder that starts in childhood. It mainly affects the cerebellum (the balance and coordination ...
