ASXL3-Related Disorder is a rare genetic condition that affects brain and body development. Most children have delayed milestones, learning disability (often ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
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 ...
Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome is a very rare, inherited (autosomal recessive) condition that starts at birth. The classic triad ...
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) syndrome is a very rare genetic condition that affects many organs from birth. The three main signs are ...
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 ...
Arthrogryposis-ectodermal dysplasia-other anomalies (AEDO) syndrome is a very rare genetic condition reported in the medical literature as a combination of (1) ...
Distal arthrogryposis with ophthalmoplegia is a genetic condition where a baby is born with tight joints mainly in the hands and feet (contractures), together ...
Distal arthrogryposis type 5 (DA5) is a rare, genetic condition that causes congenital joint contractures (stiff joints present at birth) that mostly affect ...
Arthrogryposis–oculomotor limitation–electroretinal anomalies syndrome (AOLEAS) is a very rare, inherited condition. Children are born with joint contractures ...
“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 ...
Armfield type mental retardation syndrome is a rare, X-linked recessive neurodevelopmental disorder marked by global developmental delay/intellectual ...
X-linked recessive intellectual disability syndrome (often shortened to XLID) is a group of genetic conditions that mainly affect boys and cause problems with ...
Intellectual developmental disorder (IDD) is a neurodevelopmental condition that starts in childhood. A person has big difficulties with learning, reasoning, ...
Armfield X-linked intellectual disability syndrome is a very rare genetic condition that mainly affects boys. It causes lifelong learning problems ...
Armfield syndrome—also called X-linked intellectual disability, Armfield type—is a rare genetic condition that mainly affects boys. It causes global ...
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 ...
AREDYLD stands for Acral-Renal-Ectodermal-Dysplasia-Lipoatrophic-Diabetes. It is an extremely rare genetic condition reported only in a handful of people ...
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 ...
Arachnodactyly-intellectual disability-dysmorphism syndrome (AIDD) is an ultra-rare genetic condition. People with AIDD often have long, thin fingers and toes ...
