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31 Result(s)

ORPHA:1104   (Disorder)   Anophthalmia plus syndrome

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Synonym(s) : Microphthalmia with facial clefting

ORPHA:77298   (Disorder)   Anophthalmia/microphthalmia-esophageal atresia syndrome

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Synonym(s) : Syndromic microphthalmia type 3

ORPHA:98938   (Disorder)   Colobomatous microphthalmia

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Synonym(s) : Microphthalmia with colobomatous cyst ; Microphthalmia-anophthalmia-coloboma syndrome

ORPHA:363741   (Disorder)   Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

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Keyword(s) : Colobomatous microphthalmia-obesity-hypogenitalism-mental retardation syndrome

ORPHA:424099   (Disorder)   Colobomatous microphthalmia-rhizomelic dysplasia syndrome

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Synonym(s) : Microphthalmia-coloboma-rhizomelic skeletal dysplasia

ORPHA:2250   (Disorder)   Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

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Synonym(s) : Bosma arhinia-microphthalmia syndrome

ORPHA:2542   (Group of disorders)   Isolated microphthalmia-anophthalmia-coloboma

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Synonym(s) : Isolated anophthalmia-microphthalmia syndrome

Keyword(s) : Isolated pure microphthalmia ; Microphthalmia-anophthalmia-coloboma spectrum

ORPHA:3434   (Disorder)   MMEP syndrome

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Synonym(s) : Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

ORPHA:2470   (Disorder)   Matthew-Wood syndrome

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Keyword(s) : Syndromic microphthalmia type 12

ORPHA:139471   (Disorder)   Microphthalmia with brain and digit anomalies

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Synonym(s) : Syndromic microphthalmia type 6

ORPHA:2556   (Disorder)   Microphthalmia with linear skin defects syndrome

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Synonym(s) : Syndromic microphthalmia type 7 ; Microphthalmia-dermal aplasia-sclerocornea syndrome

ORPHA:568   (Disorder)   Microphthalmia, Lenz type

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Synonym(s) : Lenz microphthalmia

Keyword(s) : Syndromic microphthalmia type 1 ; Syndromic microphthalmia type 2

ORPHA:85275   (Disorder)   Microphthalmia-ankyloblepharon-intellectual disability syndrome

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Synonym(s) : Syndromic microphthalmia type 4

Keyword(s) : Microphthalmia-ankyloblepharon-mental retardation syndrome

ORPHA:98555   (Group of disorders)   Microphthalmia-anophthalmia-coloboma

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Synonym(s) : Anophthalmia-microphthalmia syndrome

Keyword(s) : Microphthalmia-anophthalmia-coloboma spectrum

ORPHA:77299   (Disorder)   Microphthalmia-brain atrophy syndrome

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Synonym(s) : Syndromic microphthalmia type 10

ORPHA:2712   (Disorder)   Oculofaciocardiodental syndrome

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Synonym(s) : Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

ORPHA:2895   (Disorder)   Pinsky-Di George-Harley syndrome

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Synonym(s) : Microphthalmia-intellectual disability syndrome

ORPHA:178364   (Disorder)   Syndromic microphthalmia type 5

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Synonym(s) : Syndromic microphthalmia/anophthalmia due to OTX2 mutation

ORPHA:202948   (Group of disorders)   Syndromic microphthalmia-anophthalmia-coloboma

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Synonym(s) : Syndromic microphthalmia

Keyword(s) : Microphthalmia-anophthalmia-coloboma spectrum

ORPHA:431140   (Disorder)   X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

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Synonym(s) : X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

Keyword(s) : X-linked colobomatous microphthalmia-microcephaly-mental retardation-short stature syndrome

ORPHA:163966   (Disorder)   X-linked dominant chondrodysplasia, Chassaing-Lacombe type

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Synonym(s) : X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome