Genes are part of our DNA, the basic genetic material found in each of our body's cells. Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease. Abnormal cranial nerve morphology Abnormality of the inner ear Anosmia Aplasia/Hypoplasia of the earlobes Cryptorchidism Delayed puberty External ear malformation Feeding difficulties in infancy Global developmental delay Hearing impairment Hypogonadotropic hypogonadism Hypoplasia of the semicircular canal Iris coloboma Micropenis Overfolded helix Abnormal aortic valve morphology Abnormal cardiac septum morphology Abnormal morphology of female internal genitalia Abnormal soft palate morphology Abnormality of cardiovascular system morphology Anophthalmia Anterior hypopituitarism Aortic arch aneurysm Attention deficit hyperactivity disorder Autism Bifid scrotum Choanal atresia Chorioretinal coloboma Cleft palate Cleft upper lip Delayed eruption of teeth Depressed nasal bridge Dimple chin Facial asymmetry Facial palsy Gastroesophageal reflux Hypotonia Intellectual disability Interrupted aortic arch Labial hypoplasia Low-set, posteriorly rotated ears Microphthalmia Narrow face Narrow mouth Nystagmus Obsessive-compulsive behavior Optic atrophy Patent ductus arteriosus Polyhydramnios Postnatal growth retardation Ptosis Short stature Strabismus Tetralogy of Fallot Abnormal rib morphology Abnormality of bone mineral density Abnormality of immune system physiology Abnormality of the adrenal glands Abnormality of the eye Abnormality of tibia morphology Abnormality of vision Aplasia/Hypoplasia of the cerebellum Aqueductal stenosis Bifid femur Brachydactyly Clinodactyly of the 5th finger Cranial nerve paralysis Dandy-Walker malformation Epicanthus Eyelid coloboma Hemivertebrae Highly arched eyebrow Holoprosencephaly Horseshoe kidney Hydronephrosis Hypertelorism Hypoplasia of the zygomatic bone Intrauterine growth retardation Lacrimation abnormality Laryngomalacia Microcephaly Microtia Preauricular skin tag Respiratory insufficiency Scoliosis Talipes Tracheoesophageal fistula Vesicoureteral reflux
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