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Medical condition
cause of megalencephaly. This mutation has produced a classification of brain overdevelopment that consists of two syndromes including megalencephaly-capillary
Megalencephaly
Abnormally large head size
Those with benign or familial macrocephaly are considered to have megalencephaly. Many people with abnormally large heads or large skulls are healthy
Macrocephaly
Rare genetic disorder of the white matter of the brain
Stewart Alexander, who treated a 15 month-old infant presenting with megalencephaly, hydrocephaly, seizures, and developmental delays. Between 1949 and
Alexander_disease
Medical condition
a paper proposed new names for the syndrome: megalencephaly-capillary malformation or megalencephaly-capillary malformation-polymicrogyria with an abbreviation
Macrocephaly-capillary malformation
Macrocephaly-capillary_malformation
Laurence–Moon syndrome Lissencephaly Lordosis Macrocephaly Marfan syndrome Megalencephaly Microcephaly Micromelia Microtia Moebius syndrome Monosomy 9p Myasthenic
List_of_congenital_disorders
Medical condition
MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities". BMC Medical Genetics. 16 (1):
Smith–Kingsmore_syndrome
debarquement Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly Melkersson–Rosenthal syndrome Menieres disease Meningitis Menkes disease
List of neurological conditions and disorders
List_of_neurological_conditions_and_disorders
Medical condition
In the head, patients exhibit macrocephaly. This is characterized by megalencephaly, which is the enlargement of the brain leading to an increase in the
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic_leukoencephalopathy_with_subcortical_cysts
Disorder affecting development of one side of the brain
Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital disorder affecting all or a part of a cerebral hemisphere. It causes severe
Hemimegalencephaly
Familial syndrome causing hamartomas and cancers
syndrome. It typically occurs due to an abnormally enlarged brain, or megalencephaly. Patients may also exhibit dolichocephaly. Varying degrees of autism
Cowden_syndrome
Condition present at birth regardless of cause
malformation, the Dandy–Walker malformation, hydrocephalus, microencephaly, megalencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the
Birth_defect
Group of congenital brain or skull defects
Hydranencephaly (Q04.3) Iniencephaly (Q00.2) Lissencephaly (Q04.3) Megalencephaly (Q04.5) Microcephaly (Q02) Porencephaly (Q04.6) Schizencephaly (Q04
Cephalic_disorder
Protein found in humans
Mutations in the LYK5/STRADα gene are associated with polyhydramnios, megalencephaly and symptomatic epilepsy (collectively known as the PMSE syndrome).
STRAD_alpha
Rare disease of abnormal tissue growth
infiltrating lipomatosis Macrocephaly-capillary malformation Dysplastic megalencephaly Klippel–Trénaunay syndrome PIK3CA gene codes for p110α protein which
PIK3CA-related overgrowth spectrum
PIK3CA-related_overgrowth_spectrum
Medical condition
syndromes: Craniofacial dysplasia - osteopenia syndrome Polyhydramnios, megalencephaly, and symptomatic epilepsy Seckel syndrome (NSMCE2) Troyer syndrome Facial
Hyperplasia_of_midface
Rare neurodevelopmental disorder
dysmorphic facial features. Magnetic resonance imaging may further reveal megalencephaly or defects of the ventricles or white matter. Individuals with JS may
Jordan's_syndrome
Neurodegenerative disorder
myelinoclastic sclerosis. In 1931, Canavan reported a case where the megalencephaly of brain degeneration is different from that caused by a tumour. However
Spongy degeneration of the central nervous system
Spongy_degeneration_of_the_central_nervous_system
Protein-coding gene in the species Homo sapiens
nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy". Eur J Hum Genet. 24
HERC1
Flynn–Aird syndrome Focal agyria pachygyria Focal alopecia congenital megalencephaly Focal dermal hypoplasia Focal dystonia Focal facial dermal dysplasia
List_of_diseases_(F)
Protein-coding gene in humans
ovarian and testicular tumors. Mutations in CCND2 are associated to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. GRCh38: Ensembl release
Cyclin_D2
Protein-coding gene in the species Homo sapiens
affecting the anterior regions of the brain, and is accompanied by megalencephaly, epilepsy, and intellectual disability (ID). This discovery has drawn
PIDD1
Megaduodenum Mega-epiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia Megalocornea mental retardation
List_of_diseases_(M)
vanishing white matter; 603896; EIF2B5 Leukoencephalopathy, cystic, without megalencephaly; 612951; RNASET2 Leukoencephalopathy with vanishing white matter; 603896;
List_of_OMIM_disorder_codes
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