Ataxia–hearing loss–intellectual disability syndrome is a very rare genetic neurodevelopmental disorder. Children typically have global developmental delay and intellectual disability, then develop ...
ASXL3-Related Disorder is a rare genetic condition that affects brain and body development. Most children have delayed milestones, learning disability (often moderate to severe), very limited or ...
Syndromic X-linked intellectual disability Arts type is a rare genetic disorder that mostly affects boys and causes serious problems with the brain and nerves from early infancy. Babies often have ...
Fatal X-linked ataxia with deafness and loss of vision is a rare inherited disease that affects how cells make purines and pyrimidines—the basic “building blocks” for DNA, RNA, and important energy ...
Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome is a very rare, inherited (autosomal recessive) condition that starts at birth. The classic triad is: (1) arthrogryposis—stiff joints and ...
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) syndrome is a very rare genetic condition that affects many organs from birth. The three main signs are tight or fixed joints (arthrogryposis), ...
Johnston-Aarons-Schelley syndrome is the name used for a single recessive genetic syndrome first described in a 1993 medical report. Babies had three main findings from birth: (1) multiple joint ...
Arthrogryposis-ectodermal dysplasia-other anomalies (AEDO) syndrome is a very rare genetic condition reported in the medical literature as a combination of (1) congenital joint contractures ...
Distal arthrogryposis with ophthalmoplegia is a genetic condition where a baby is born with tight joints mainly in the hands and feet (contractures), together with weakness or limited movement of the ...
Distal arthrogryposis type 5 (DA5) is a rare, genetic condition that causes congenital joint contractures (stiff joints present at birth) that mostly affect the hands and feet. People with DA5 often ...
Arthrogryposis–oculomotor limitation–electroretinal anomalies syndrome (AOLEAS) is a very rare, inherited condition. Children are born with joint contractures (stiff, bent joints at birth), ...
“Arnold-Stickler-Bourne syndrome” is the name historically used for a proposed, extremely rare syndrome seen in one published patient who had a triad of problems: (1) corneal crystals and other eye ...
Armfield type mental retardation syndrome is a rare, X-linked recessive neurodevelopmental disorder marked by global developmental delay/intellectual disability, short stature, seizures, small hands ...
X-linked recessive intellectual disability syndrome (often shortened to XLID) is a group of genetic conditions that mainly affect boys and cause problems with learning, thinking, and daily life ...
Intellectual developmental disorder (IDD) is a neurodevelopmental condition that starts in childhood. A person has big difficulties with learning, reasoning, and problem-solving (intellectual ...
Armfield X-linked intellectual disability syndrome is a very rare genetic condition that mainly affects boys. It causes lifelong learning problems (intellectual disability), slow development, short ...
Armfield syndrome—also called X-linked intellectual disability, Armfield type—is a rare genetic condition that mainly affects boys. It causes global developmental delay and lifelong intellectual ...
AREDYLD syndrome is an extremely rare genetic condition first described in medical journals in 1983. The name tells you the main parts: “acral” (hands and feet) and “renal” (kidneys) defects; ...
AREDYLD stands for Acral-Renal-Ectodermal-Dysplasia-Lipoatrophic-Diabetes. It is an extremely rare genetic condition reported only in a handful of people worldwide. The main features are loss of body ...
De Die–Smulders–Vles–Fryns syndrome is an extremely rare congenital (present at birth) disorder first described in 1993 in two unrelated girls who shared the same cluster of features: short and broad ...
