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Seckels syndrom
Seckels syndrom er en arvelig tilstand hvor barnet allerede i fosterlivet utvikler kortvoksthet og mikrocefali (lite hode). Typiske symptomer er utviklingshemming og karakteristiske ansiktstrekk. Behandlingen er svært individuell og tilpasset den enkeltes…
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Sjeldne diagnoser A-Å
… søkemotor. ABCDEFGHIJKLMNOPQRSTUVWXYZÆØÅ 22q11 syndrom 22q13 syndrom 47 XXX 47 XXY syndrom 47 XYY syndrom 48… syndrom Svært sjeldne kromosomavvik med utviklingshemning Syndromal immunsvikt Syndromale kraniosynostoser Syndromatisk…
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Microcephaly: A clinical genetics approach
… impairments inborn inbreeding infancy infant infantile infants infants' inherit inheritable inheritance inherited… static statural stature statured streaks studies supplemented syndrome-families syndrome-family syndromes syndromic synthetase…
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Microcephaly in infants and children: Etiology and evaluation
… idm impairment inbreeding incisor infancy infant infantile infants infants' intellectual intelligence intercept… stunted stunting stunts symmetric synaptic syndacty syndactyly syndromal syndromic t(3;3) taybi toddler toddler's toddlers…
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Bloom syndrome
… impaired inbreeding incisors infancy infant infantile infants infants' infertile infertility inflicted instability… stunt stunted stunting stunts subfertility sun sun's switching syndrome syndrome-families syndrome: telangiectasia…
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Syndromic immunodeficiencies
… immunologic immunoosseous impacted infancy infant infantile infants infants' infarcts instability intellectual intron… subclass subfami subfamily subsets supraorbital swi swi/snf syndromic t(1;16) telangiectasia telangiectasias termed…
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Microduplication syndromes
… hypotonia i2 imprinted incompetence infancy infant infantile infants infants' intellectual interphalangeal interpreting… suppressor swallow swallowed swallowers swallowing swallows syndromes syndromic syringomyelia syrinx t(1;22) t(2;13) t(3;5)…
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Syndromes with craniofacial abnormalities
… ichthyosis-deafness incompetence infancy infant infantile infants infants' inflammatories intellectual intelligence… sry sry-box sry-related stickler subunit subunits syndrome syndrome-families syndrome-family syndrome: syndromes…
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Nail-patella syndrome
… immunofluorescence immunofluoresence infancy infant infantile infants infants' integral intellectual interphalangeal… straighten structured subluxation swan swan-neck symmetrical syndrome syndrome-families t(12;22) talipes tingling to-ulnar…
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Nijmegen breakage syndrome
… immunodeficiency-6 immunoglobulin-like infancy infant infantile infants infants' infertile infertility inflicted instability… stunt stunted stunting stunts switched syndacty syndactyly syndrome syndrome-like t(2;11) t(8;22) t11;14 t8;14 t9;14 task…