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91 Result(s)

ORPHA:99742   (Disorder)   Amish lethal microcephaly

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ORPHA:2514   (Subtype of disorder)   Autosomal dominant primary microcephaly

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ORPHA:2518   (Disorder)   Autosomal recessive chorioretinopathy-microcephaly syndrome

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Synonym(s) : Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Keyword(s) : Autosomal recessive chorioretinopathy-microcephaly-mental retardation syndrome

ORPHA:2512   (Subtype of disorder)   Autosomal recessive primary microcephaly

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Synonym(s) : Microcephaly vera ; True microcephaly

ORPHA:1317   (Disorder)   CAMFAK syndrome

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Synonym(s) : Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome

ORPHA:251383   (Disorder)   CK syndrome

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Synonym(s) : X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

ORPHA:169079   (Disorder)   Cernunnos-XLF deficiency

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Synonym(s) : Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome

ORPHA:464738   (Disorder)   Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

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Keyword(s) : Congenital cataract-microcephaly-nevus flammeus simplex-severe mental retardation syndrome

ORPHA:1229   (Disorder)   Congenital intrauterine infection-like syndrome

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Synonym(s) : Microcephaly-intracranial calcification-intellectual disability syndrome

ORPHA:2508   (Disorder)   Corpus callosum agenesis-abnormal genitalia syndrome

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Synonym(s) : Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:1305   (Disorder)   Feingold syndrome

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Synonym(s) : Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome ; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome

Keyword(s) : Microcephaly-mental retardation-tracheoesophageal fistula (MMT) syndrome

ORPHA:391641   (Subtype of disorder)   Feingold syndrome type 1

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Synonym(s) : Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 ; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1

ORPHA:391646   (Subtype of disorder)   Feingold syndrome type 2

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Synonym(s) : Microcephaly-digital anomalies-normal intelligence syndrome type 2 ; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2

ORPHA:3255   (Disorder)   Filippi syndrome

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Synonym(s) : Type 1 syndactyly-microcephaly-intellectual disability syndrome

ORPHA:2065   (Disorder)   Galloway-Mowat syndrome

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Synonym(s) : Microcephaly-hiatus hernia-nephrotic syndrome

ORPHA:66629   (Disorder)   Goldberg-Shprintzen megacolon syndrome

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Synonym(s) : Megacolon-microcephaly syndrome

ORPHA:293967   (Disorder)   Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

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Synonym(s) : Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome

ORPHA:363611   (Disorder)   Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

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Keyword(s) : Mental retardation-feeding difficulties-developmental delay-microcephaly syndrome

ORPHA:468678   (Disorder)   Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

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Keyword(s) : Mental retardation-microcephaly-strabismus-behavioral abnormalities syndrome

ORPHA:199642   (Disorder)   Isolated congenital microcephaly

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ORPHA:2319   (Disorder)   Juberg-Hayward syndrome

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Synonym(s) : Cleft lip/palate-abnormal thumbs-microcephaly syndrome

ORPHA:1824   (Disorder)   Lowry-Wood syndrome

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Synonym(s) : Epiphyseal dysplasia-microcephaly-nystagmus syndrome

ORPHA:85282   (Disorder)   MEHMO syndrome

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Synonym(s) : X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome

ORPHA:3434   (Disorder)   MMEP syndrome

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

ORPHA:294016   (Disorder)   Microcephaly-capillary malformation syndrome

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Synonym(s) : Microcephaly-cutaneous capillary malformation syndrome

ORPHA:329332   (Disorder)   Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

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Synonym(s) : Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome

ORPHA:488168   (Disorder)   Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

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Keyword(s) : Microcephaly-congenital cataract-ichtyosiform dermatitis syndrome

ORPHA:457284   (Disorder)   Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

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Keyword(s) : Microcephaly-corpus callosum hypoplasia-mental retardation-facial dysmorphism syndrome

ORPHA:2533   (Disorder)   Microcephaly-deafness-intellectual disability syndrome

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Keyword(s) : Microcephaly-deafness-mental retardation syndrome

ORPHA:137653   (Disorder)   Microcephaly-digital anomalies-intellectual disability syndrome

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Keyword(s) : Microcephaly-digital anomalies-mental retardation syndrome

ORPHA:217026   (Disorder)   Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

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Synonym(s) : Microcephaly-faciocardioskeletal syndrome

ORPHA:137658   (Disorder)   Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

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Keyword(s) : Microcephaly-mental retardation-phalangeal and neurological anomalies syndrome

ORPHA:457351   (Disorder)   Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

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Synonym(s) : Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Keyword(s) : Microcephaly-mental retardation-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

ORPHA:2526   (Disorder)   Microcephaly-lymphedema-chorioretinopathy syndrome

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Keyword(s) : Microcephaly-chorioretinopathy-lymphedema-mental retardation syndrome

ORPHA:2519   (Disorder)   Microcephaly-seizures-intellectual disability-heart disease syndrome

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Keyword(s) : Microcephaly-seizures-mental retardation-heart disease syndrome

ORPHA:423306   (Disorder)   Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

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Keyword(s) : Microcephaly-short stature-mental retardation-facial dysmorphism syndrome

ORPHA:397951   (Disorder)   Microcephaly-thin corpus callosum-intellectual disability syndrome

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Keyword(s) : Microcephaly-thin corpus callosum-mental retardation syndrome

ORPHA:2558   (Disorder)   Mikati-Najjar-Sahli syndrome

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Synonym(s) : Microcephaly-hypergonadotropic hypogonadism-short stature syndrome

ORPHA:647   (Disorder)   Nijmegen breakage syndrome

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Synonym(s) : Immunodeficiency-microcephaly-chromosomal instability syndrome

ORPHA:240760   (Disorder)   Nijmegen breakage syndrome-like disorder

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Synonym(s) : Microcephaly and chromosomal instability without immunodeficiency

ORPHA:434179   (Disorder)   Orofaciodigital syndrome type 14

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Synonym(s) : Microcephaly-cerebral malformation-orofaciodigital syndrome

ORPHA:97249   (Disorder)   Pontocerebellar hypoplasia type 3

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Synonym(s) : Cerebellar atrophy with progressive microcephaly

ORPHA:477673   (Disorder)   Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

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Keyword(s) : Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-mental retardation syndrome

ORPHA:391408   (Disorder)   Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

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Keyword(s) : Primary microcephaly-mild mental retardation-young-onset diabetes syndrome

ORPHA:3132   (Disorder)   Say-Barber-Miller syndrome

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Synonym(s) : Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

ORPHA:447997   (Disorder)   Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

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Synonym(s) : Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ORPHA:506307   (Disorder)   Stromme syndrome

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Synonym(s) : Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome

ORPHA:269528   (Group of disorders)   Syndrome with microcephaly as major feature

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ORPHA:363444   (Disorder)   THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

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Keyword(s) : Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type

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:163971   (Disorder)   X-linked intellectual disability, Cilliers type

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Synonym(s) : X-linked intellectual disability-microcephaly-testicular failure syndrome

ORPHA:163937   (Disorder)   X-linked intellectual disability, Najm type

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Synonym(s) : X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

Keyword(s) : X-linked mental retardation-microcephaly-brainstem and cerebellum hypoplasia syndrome