BIOMAT Database Logo BIOMAT Database Logo

Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition. 1978

R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012164 Retinal Diseases Diseases involving the RETINA. Disease, Retinal,Diseases, Retinal,Retinal Disease
D002540 Cerebral Cortex The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulci. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions. Allocortex,Archipallium,Cortex Cerebri,Cortical Plate,Paleocortex,Periallocortex,Allocortices,Archipalliums,Cerebral Cortices,Cortex Cerebrus,Cortex, Cerebral,Cortical Plates,Paleocortices,Periallocortices,Plate, Cortical
D004677 Encephalocele Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. Frontal Encephalocele,Hernia, Cerebral,Occipital Encephalocele,Acquired Encephalocele,Bifid Cranium,Cephalocele,Cerebellar Hernia,Cerebellar Herniation,Cranial Meningoencephalocele,Craniocele,Cranium Bifidum,Encephalocele, Acquired,Encephalocele, Frontal,Encephalocele, Occipital,Encephalocele, Sincipital,Notoencephalocele,Sincipital Encephalocele,Tonsillar Hernia,Tonsillar Herniation,Acquired Encephaloceles,Bifid Craniums,Bifidum, Cranium,Bifidums, Cranium,Cephaloceles,Cerebellar Hernias,Cerebellar Herniations,Cerebral Hernia,Cerebral Hernias,Cranial Meningoencephaloceles,Cranioceles,Cranium Bifidums,Cranium, Bifid,Craniums, Bifid,Encephaloceles,Encephaloceles, Acquired,Encephaloceles, Frontal,Encephaloceles, Occipital,Encephaloceles, Sincipital,Frontal Encephaloceles,Hernia, Cerebellar,Hernia, Tonsillar,Hernias, Cerebellar,Hernias, Cerebral,Hernias, Tonsillar,Herniation, Cerebellar,Herniation, Tonsillar,Herniations, Cerebellar,Herniations, Tonsillar,Meningoencephalocele, Cranial,Meningoencephaloceles, Cranial,Notoencephaloceles,Occipital Encephaloceles,Sincipital Encephaloceles,Tonsillar Hernias,Tonsillar Herniations
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006849 Hydrocephalus Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA. Communicating Hydrocephalus,Congenital Hydrocephalus,Obstructive Hydrocephalus,Post-Traumatic Hydrocephalus,Aqueductal Stenosis,Cerebral Ventriculomegaly,Fetal Cerebral Ventriculomegaly,Hydrocephalus Ex-Vacuo,Hydrocephaly,Aqueductal Stenoses,Cerebral Ventriculomegalies,Cerebral Ventriculomegalies, Fetal,Cerebral Ventriculomegaly, Fetal,Fetal Cerebral Ventriculomegalies,Hydrocephalus Ex Vacuo,Hydrocephalus Ex-Vacuos,Hydrocephalus, Communicating,Hydrocephalus, Congenital,Hydrocephalus, Obstructive,Hydrocephalus, Post-Traumatic,Post Traumatic Hydrocephalus,Stenoses, Aqueductal,Stenosis, Aqueductal,Ventriculomegalies, Cerebral,Ventriculomegalies, Fetal Cerebral,Ventriculomegaly, Cerebral,Ventriculomegaly, Fetal Cerebral

Related Publications

R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.
August 1981, Journal of medical genetics,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
Black hair follicular dysplasia, an autosomal recessive condition in dogs.
October 1998, The Canadian veterinary journal = La revue veterinaire canadienne,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.
December 1991, American journal of medical genetics,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia.
April 1985, Pediatrics,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
Autosomal recessive nonsyndromal hydrocephalus.
October 1988, American journal of medical genetics,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
Metaphyseal dysplasia, anetoderma and optic atrophy: an autosomal recessive syndrome.
January 1974, Birth defects original article series,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
[Hyaloid-retinal dysplasia (pseudoglioma) due to recessive autosomal heredity].
November 1969, Annales d'oculistique,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review.
October 1986, The British journal of ophthalmology,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
Congenital generalized fibromatosis: an autosomal recessive condition?
May 1976, Clinical genetics,
R A Pagon, and J W Chandler, and W R Collie, and S K Clarren, and J Moon, and S A Minkin, and J G Hall
Total intestinal aganglionosis. An autosomal recessive condition?
November 1977, Archives of disease in childhood,
Copied contents to your clipboard!