genetics COLLOQ 2 - symptoms

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• ataxia, epileptic seizures, happy & excited with periods of impropriate laughter, speech impairments, mental retardation angelman syndrome
• feeding difficulties, weak muscle tonus, developemental & intellectual disability, temper tantrums & compulsive behavior prader-willi syndrome
• regression (loss of speech & acquired skills), stereotypical movements of hands, mental retardation, microcephaly rett syndrome
• increased growth beckwith-wiedemann syndrome
• intrauterin growth restriction & growth restriction after birth, assymetric body, feeding difficulties, triangular-shaped head, prominent forehead silver-russel syndrome
• polydipsia, polyphagia, polyuria, long term consequences in the heart, kidneys and eyes diabetes mellitus
• dysmorphia, psychomotor delay, visceral/cardiac malformations down syndrome
• growth deficiency, craniofacial deficiency, destinctive hand posture, major malformations of the heart edward syndrome
• severe malformations of CNS/heart/bones/kidneys/eyes/digestive system patau syndrome
• high-pitched & cat-like cry, microcephaly, moon-shaped face, severe psychomotor delay, hyperactivity, tantrums & destructive behavior, low IQ cri du chat syndrome
• developmental delay (speech, motor skills), behavioral problems (tantrums, screeming), brain abnormalities, low muscle tonus, seizures chromosome 1p36 deletion syndrome
• ataxia, reduced muscle mass, reduced fetal movement, dolichocephaly wolf-hirschhorn syndrome
• cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcemia digeorge (22 del) syndrome

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