NORD^® Rare Disease Database

agenesis of the corpus callosum with peripheral neuropathy

Also known as: ACCPN, Andermann syndrome, Charlevoix disease, HMSN/ACC, agenesis of corpus callosum with neuronopathy, agenesis of corpus callosum with peripheral neuropathy, agenesis of corpus callosum with polyneuropathy, agenesis of the corpus callosum with peripheral neuropathy, corpus callosum agenesis neuronopathy, corpus callosum agenesis-neuronopathy syndrome, corpus callosum, agenesis of, with neuronopathy, hereditary motor and sensory neuropathy with agenesis of the corpus callosum, peripheral neuropathy associated with agenesis of the corpus callosum, polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum

carcinosarcoma of the corpus uteri

Also known as: body of uterus carcinosarcoma, carcinosarcoma of corpus uteri, carcinosarcoma of the corpus uteri, carcinosarcoma of the uterine body, carcinosarcoma of the uterine corpus, carcinosarcoma of the uterus, carcinosarcoma of uterine body, carcinosarcoma of uterine corpus, carcinosarcoma of uterus, corpus uteri malignant mixed mesodermal tumor, corpus uteri malignant mixed mesodermal tumour, malignant mixed Mullerian tumor of the corpus uteri, malignant mixed Mullerian tumour of the corpus uteri, malignant mixed Müllerian tumor of the corpus uteri, malignant mixed Müllerian tumour of the corpus uteri, malignant mixed mesodermal neoplasm of the uterine body, malignant mixed mesodermal neoplasm of the uterine corpus, malignant mixed mesodermal neoplasm of the uterus, malignant mixed mesodermal neoplasm of uterine body, malignant mixed mesodermal neoplasm of uterine corpus, malignant mixed mesodermal neoplasm of uterus, malignant mixed mesodermal tumor of the uterine body, malignant mixed mesodermal tumor of the uterine corpus, malignant mixed mesodermal tumor of the uterus, malignant mixed mesodermal tumor of uterine body, malignant mixed mesodermal tumor of uterine corpus, malignant mixed mesodermal tumor of uterus, malignant mixed mesodermal tumour of the uterine body, malignant mixed mesodermal tumour of the uterine corpus, malignant mixed mesodermal tumour of the uterus, malignant mixed mesodermal tumour of uterine body, malignant mixed mesodermal tumour of uterine corpus, malignant mixed mesodermal tumour of uterus, malignant mixed müllerian tumor of corpus uteri, malignant mixed müllerian tumour of corpus uteri, mixed Mullerian cancer of corpus uteri, mixed Mullerian sarcoma of the uterus, mixed Mullerian sarcoma of uterus, mixed Müllerian cancer of corpus uteri, mixed Müllerian sarcoma of the uterus, mixed Müllerian sarcoma of uterus, uterine body carcinosarcoma, uterine body malignant mixed mesodermal neoplasm, uterine body malignant mixed mesodermal tumor, uterine body malignant mixed mesodermal tumour, uterine carcinosarcoma, uterine corpus carcinosarcoma, uterine corpus malignant mixed Mullerian neoplasm, uterine corpus malignant mixed Mullerian tumor, uterine corpus malignant mixed Mullerian tumour, uterine corpus malignant mixed Müllerian neoplasm, uterine corpus malignant mixed Müllerian tumor, uterine corpus malignant mixed Müllerian tumour, uterine corpus malignant mixed mesodermal (Mullerian) tumor, uterine corpus malignant mixed mesodermal (Mullerian) tumour, uterine corpus malignant mixed mesodermal (Müllerian) tumor, uterine corpus malignant mixed mesodermal (Müllerian) tumour, uterine corpus malignant mixed mesodermal neoplasm, uterine corpus malignant mixed mesodermal tumor, uterine corpus malignant mixed mesodermal tumour, uterine malignant mixed mesodermal neoplasm, uterine malignant mixed mesodermal tumor, uterine malignant mixed mesodermal tumour, uterine mixed Mullerian sarcoma, uterine mixed Müllerian sarcoma

isolated focal cortical dysplasia type II

Also known as: CDT, FCD 2A, FCD 2B, FCD type II, FCDT, FCORD2, Fcd2, cortical dysplasia of Taylor, cortical dysplasia of Taylor with balloon cells, cortical dysplasia of Taylor without balloon cells, cortical dysplasia of Taylor, dysplasia only, cortical dysplasia, Taylor type, focal cortical dysplasia of Taylor, focal cortical dysplasia of Taylor, type 2A, focal cortical dysplasia of Taylor, type 2B, focal cortical dysplasia type 2, focal cortical dysplasia type II, focal cortical dysplasia, type 2, focal cortical dysplasia, type 2A, focal cortical dysplasia, type 2B, focal cortical dysplasia, type II, focal cortical dysplasia, type II, somatic, isolated focal cortical dysplasia type 2

X-linked lissencephaly with abnormal genitalia

Also known as: LISX2, X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies, X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with ambiguous genitalia, X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome, X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome, XLAG (X-linked lissencephaly with abnormal genitalia) syndrome, XLAG syndrome, Xlisg, hydranencephaly and abnormal genitalia, hydranencephaly with abnormal genitalia, lissencephaly, X-linked 2, lissencephaly, X-linked, 2, lissencephaly, X-linked, type 2, lissencephaly, X-linked, with ambiguous genitalia

lissencephaly type 1 due to doublecortin gene mutation

Also known as: Dc syndrome, Double cortex syndrome, LISX, LISX1, X-linked lissencephaly, X-linked lissencephaly type 1, XLIS, Xlis, lissencephaly X-linked, lissencephaly and agenesis of corpus callosum, lissencephaly type 1 due to doublecortin gene mutation, lissencephaly, X-linked, lissencephaly, X-linked, 1, lissencephaly, X-linked, type 1, subcortical band heterotopia, X-linked, subcortical laminal heterotopia, X-linked, subcortical laminar heterotopia, X-linked, subcortical laminar heterotopia, X-linked,

heterotopia, periventricular, X-linked dominant

Also known as: BPNH, NHBP, PVNH1, X-linked periventricular heterotopia, bilateral periventricular nodular heterotopia, heterotopia familial nodular, heterotopia periventricular X-linked dominant, heterotopia, familial nodular, heterotopia, periventricular nodular, with Frontometaphyseal dysplasia, heterotopia, periventricular, 1, X-linked dominant, heterotopia, periventricular, Ehlers-Danlos variant, heterotopia, periventricular, X-linked dominant, nodular heterotopia bilateral periventricular, nodular heterotopia, bilateral periventricular, periventricular nodular heterotopia 1, periventricular nodular heterotopia 4, periventricular nodular heterotopia 4, formerly

pachygyria-intellectual disability-epilepsy syndrome

Also known as: Kuzniecky syndrome, pachygyria with intellectual disability and seizures, pachygyria with intellectual disability, seizures, and arachnoid cysts, pachygyria with mental retardation and seizures, pachygyria with mental retardation, seizures, and arachnoid cysts, pachygyria, intellectual disability and epilepsy, pachygyria, mental retardation and epilepsy

X-linked complicated corpus callosum dysgenesis

Also known as: X-linked complicated corpus callosum agenesis, X-linked partial agenesis of corpus callosum, X-linked partial corpus callosum agenesis, corpus callosum, partial agenesis of, X-linked, corpus callosum, partial agenesis of, X-linked recessive

corpus callosum agenesis-abnormal genitalia syndrome

Also known as: ACC with abnormal genitalia, ACC-abnormal genitalia syndrome, New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum, Proud Levine Carpenter syndrome, Proud syndrome, Proud-Levine-Carpenter syndrome, corpus callosum, agenesis of, with abnormal genitalia, microcephaly-corpus callosum agenesis-abnormal genitalia syndrome

microcephaly-polymicrogyria-corpus callosum agenesis syndrome

megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

Also known as: MPPH1, Meg-PMG-Megacc syndrome, PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development, megalencephaly, polymicrogyria, mega corpus callosum syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2

lissencephaly due to LIS1 mutation

Also known as: LIS1, PAFAH1B1-related lissencephaly, lissencephaly 1, lissencephaly sequence, isolated, lissencephaly, classic, subcortical band heterotopia, subcortical laminar heterotopia

lissencephaly 4

Also known as: LIS4, NDE1 lissencephaly (disease), lissencephaly (disease) caused by mutation in NDE1, lissencephaly 4, lissencephaly 4 (with microcephaly), lissencephaly 4 with microcephaly, lissencephaly 4, with microcephaly, lissencephaly type 4

periventricular nodular heterotopia 7

Also known as: NEDD4L periventricular nodular heterotopia, PVNH7, periventricular nodular heterotopia 7, periventricular nodular heterotopia 7; PVNH7, periventricular nodular heterotopia caused by mutation in NEDD4L, periventricular nodular heterotopia type 7

lissencephaly 6 with microcephaly

Also known as: KATNB1 Microlissencephaly, KATNB1 microlissencephaly, LIS6, Microlissencephaly caused by mutation in KATNB1, lissencephaly 6 with microcephaly, lissencephaly 6, with microcephaly, microlissencephaly caused by mutation in KATNB1

white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Also known as: Curatolo Cilio Pessagno syndrome, Curatolo-Cilio-Pessagno syndrome, familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency

uterine corpus leiomyoma

Also known as: UL, body of uterus fibroid, body of uterus leiomyoma, corpus uteri fibroid, corpus uteri leiomyoma, fibroid of body of uterus, fibroid of corpus uteri, fibroid of the body of uterus, fibroid of the corpus uteri, fibroid of the uterine body, fibroid of the uterine corpus, fibroid of uterine body, fibroid of uterine corpus, leiomyoma of body of uterus, leiomyoma of corpus uteri, leiomyoma of the body of uterus, leiomyoma of the corpus uteri, leiomyoma of the uterine body, leiomyoma of the uterine corpus, leiomyoma of uterine body, leiomyoma of uterine corpus, leiomyoma, uterine, plexiform leiomyoma, uterine body fibroid, uterine body leiomyoma, uterine corpus fibroid, uterine corpus leiomyoma, uterine corpus leiomyomata, uterine fibroid, uterine leiomyoma, uterus fibroma

bilateral generalized polymicrogyria

Also known as: MSSP, PMGYS, bilateral generalized polymicrogyria, microcephaly, short stature, and polymicrogyria with or without seizures, microcephaly, short stature, and polymicrogyria with seizures, polymicrogyria with seizures

cobblestone lissencephaly without muscular or ocular involvement

Also known as: LIS5, cobblestone lissencephaly without muscular or eye involvement, cobblestone lissencephaly without muscular or ocular involvement, lissencephaly 5, lissencephaly type 2 without muscular or eye involvement, lissencephaly type 2 without muscular or ocular involvement, lissencephaly type 5

Vici syndrome

Also known as: Dionisi Vici Sabetta Gambarara syndrome, Dionisi-Vici-Sabetta-Gambarara syndrome, VICIS, Vici syndrome, absent corpus callosum cataract immunodeficiency, absent corpus callosum-cataract-immunodeficiency syndrome, corpus callosum agenesis-cataract-immunodeficiency syndrome, immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum, immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum

spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Also known as: ASCT1 deficiency, SPATCCM, spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, spastic tetraplegia, thin corpus callosum, and progressive microcephaly, spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

hereditary spastic paraplegia 11

Also known as: HSP-TCC, Nakamura Osame syndrome, Nakamura-Osame syndrome, SPG11, SPG11 hereditary spastic paraplegia, autosomal recessive spastic paraplegia 11, autosomal recessive spastic paraplegia complicated with thin corpus callosum, autosomal recessive spastic paraplegia type 11, autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, hereditary spastic paraplegia caused by mutation in SPG11, hereditary spastic paraplegia mental impairment and thin corpus callosum, hereditary spastic paraplegia type 11, spastic paraplegia - intellectual deficit - thin corpus callosum, spastic paraplegia 11, spastic paraplegia 11, autosomal recessive, spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum, spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum, spastic paraplegia-intellectual disability-thin corpus callosum syndrome

subcortical band heterotopia

Also known as: Double cortex, HeCo, band heterotopia, double cortex syndrome, familial band heterotopia, heterotopic cortex, subcortical laminar heterotopia

complex cortical dysplasia with other brain malformations 7

Also known as: CDCBM7, PMGYSA, TUBB2B complex cortical dysplasia with other brain malformations, complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B, complex cortical dysplasia with other brain malformations type 7, cortical dysplasia, COMPLEX, with OTHER brain malformations 7, cortical dysplasia, Complex, with Other brain malformations 7, polymicrogyria due to TUBB2B mutation, polymicrogyria, symmetric or asymmetric

lissencephaly 8

Also known as: LIS8, TMTC3 lissencephaly (disease), lissencephaly (disease) caused by mutation in TMTC3, lissencephaly 8, lissencephaly 8; LIS8, lissencephaly type 8