ichthyosis
ichthyosis-cheek-eyebrow syndrome
ichthyosis-coloboma-heart defect-deafness-mental retardation
IFAP syndrome(ichthyosis follicularis, alopecia, and photophobia syndrome)
immunodeficiency, hyper IgE type, Wiskott-Aldrich typewith centromeric instability, immunodeficiency-centromeric instability-facial anomalies(ICF)
incontinentia pigmenti, Bloch-Sulzberger syndrome
inflammatory disease, neonatal Bates-Lorber type
IVIC syndrome
jaw-winking syndrome
jejunal atresia
Johanson-Blizzard syndrome
Joubert syndrome
Kabuki make-up syndrome
Kallmann syndrome
Karsch-Neugebauer syndrome
KBG syndrome
keratosis palmaris et plantaris of Unna-Thost
Keutel syndrome
kidney, medullary sponge, polycystic disease-cataract-blindness, polycystic disease, dominant, renal dysplasia, Potter type II
King syndrome
Klippel-Feil syndrome
Klippel-Trenaunay-Weber syndrome
Kniest dysplasia
Knobloch syndrome
knuckle pads-leukonychia-deafness
Krabbe disease, globoid cell leukodystrophy
Krause-Kivlin syndrome(Krause-Van Schooneveld-Kivlin syndrome, Peters-plus syndrome)
Kuskokwim syndrome
kyphomelic dysplasia
lacrimal glands
lacrimo-auriculo-dento-digital syndrome
Larsen syndrome
larynx
Laurence-Moon syndrome
lens
lentigines syndrome, multiple
Lenz microphthalmia syndrome
leprechaunism
Leri pleonosteosis syndrome
Lesch-Nyhan syndrome
Liddle syndrome
limb and scalp defects, Adams-Oliver type
limb body wall complex
limb defect with absent ulna/fibula
limb-oto-cardiac syndrome
limb reduction-ichthyosis, CHILD syndrome
limb, upper hypoplasia-Mullerian duct defects
limbs, supernumerary
lip, cheilitis glandularis
lipodystrophy-coarse facies-acanthosis nigricans, Miescher type
lipodystrophy, congenital generalized (Berardinelli-Seip syndrome)
--中　略--
X-linked α-thalassemia/mental retardation (ATR-X) syndrome
X-linked mental retardation
X-linked mental retardation, fragile X syndrome
xanthomatosis, cerebrotendinous
xeroderma pigmentosum
Young-Simpson syndrome
Yunis-Varon syndrome
Zellweger syndrome
先天異常の定義・分類と疫学
先天異常の包括医療
遺伝カウンセリング
先天異常モニタリング
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