صحت اور بیماری - جینیاتی عوارض

a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues

مارفان سنڈروم

a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity

نیورو فائبرو میٹوسیس

genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins

نوناں سنڈروم, نوناں ازم

a genetic disorder with symptoms like insatiable appetite, obesity, intellectual disability, and developmental delays caused by gene deletion or loss of function on chromosome 15

پرادر-ویلی سنڈروم, پرادر اور ویلی کا سنڈروم

a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations

ریٹ سنڈروم

a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death

ٹی سیکس بیماری, ٹی سیکس عارضہ

a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe

تھلیسیمیا

a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics

ٹوریٹ سنڈروم, ٹوریٹ سنڈروم (ٹک)

a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin

ایل بینزم

a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15

اینجیل مین سنڈروم, اینجیل مین سنڈروم (ایک نایاب جینیاتی بیماری)

a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae

اینکیلوزنگ اسپونڈلائٹس, دائمی سوزشی آرتھرائٹس

a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations

ایپرٹ سنڈروم, ایپرٹ سنڈروم (جینیاتی بیماری)

a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands

شارکو-میری-ٹوٹھ بیماری, شارکو-میری-ٹوٹھ سنڈروم

a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands

جنیاتی ایڈری نل ہائپرپلازی, پیدائشی ایڈ رینل ہائپرپلازی

a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications

کیسٹک فائبرس, سِسٹک فائبروسیس

a genetic condition caused by the presence of an extra copy of chromosome 21, leading to intellectual disabilities, distinct facial features, and potential health issues

ڈاؤن سنڈروم, ٹرائی سوومی 21

a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production

ایہلرز-ڈینلوس سنڈروم, ایہلرز-ڈینلوس بیماری

a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage

فبری بیماری, فبریوز

a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function

نرم X سنڈروم, Fragile X سنڈروم

a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding

ہیپوفیلیا

a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage

ہیماکرومیٹوسس

a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences

کلا ئنفلٹر سنڈروم, کلا ئنفلٹر سنڈروم (جینیاتی حالت)

a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges

ٹرنر سنڈروم, ٹرنر سنڈروم (جینیاتی شرط)

a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency

وون ولبرینڈ بیماری, وون ولبرینڈ فیکٹر کی کمی

a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits

وِلیمز سنڈروم

a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms

ہنٹنگٹن کی بیماری, ہنٹنگٹن کی کوریا

a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications

سکل سیل بیماری, ڈرپانوسائٹس

a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles

ڈسٹروفی, پٹھوں کی ڈسٹروفی