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Journal of Medical Genetics, ISSN 0022-2593, 06/2011, Volume 48, Issue 6, pp. 396 - 406
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 7/2019, Volume 67, Issue 7, pp. 1231 - 1233
Optic nerve (ON) aplasia is a rare congenital anomaly. It is characterised by the absence of optic nerve, nerve fibre layer, ganglion cells, and retinal blood... 
Coloboma | corpus callosum hypogenesis | OPHTHALMOLOGY | partial aniridia | optic nerve aplasia | Genetic disorders | Physiological aspects | Usage | Magnetic resonance imaging | Corpus callosum | Optic nerve | Vocational rehabilitation | Optic chiasm | Blood vessels | Retina | Visual evoked potentials | Optic tract | Eye | Aplasia | Consent | Aniridia | Ophthalmology | Ganglion cells | Case Reports
Journal Article
Journal Article
Journal Article
Iranian Journal of Pediatrics, ISSN 2008-2142, 10/2015, Volume 25, Issue 5, p. e1787
Introduction: Congenital mirror movement disorder designates involuntary movements on one side of the body that occur as mirror of the intentional movements on... 
Corpus callosum hypogenesis | Colpocephaly | Mirror movements | Attention deficit and hyperactivity disease | PEDIATRICS | Mirror Movements | Corpus Callosum Hypogenesis | Attention Deficit and Hyperactivity Disease | CORPUS-CALLOSUM | Case Report
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2885 - 2896
The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth... 
hypogenesis of corpus callosum | retinal pigmentation | chilblains | abnormal gyral pattern | microdontia | U4atac snRNA | pigmentary disorder | microcephalic osteodysplastic primordial dwarfism I (MOPD I) | fair skin | vasculopathy | Vasculopathy | Chilblains | Microdontia | Microcephalic osteodysplastic primordial dwarfism I (MOPD I) | Pigmentary disorder | Retinal pigmentation | Hypogenesis of corpus callosum | Abnormal gyral pattern | Fair skin | CEPHALOSKELETAL DYSPLASIA | ANOMALIES | DEVELOPMENTAL DISORDER | TAYBI-LINDER-SYNDROME | CONGENITAL FAMILIAL DWARFISM | PCNT GENE | GENETICS & HEREDITY | SECKEL-SYNDROME | OF-THE-LITERATURE | hypo-genesis of corpus callosum | MANIFESTATIONS | Osteochondrodysplasias - pathology | Microcephaly - genetics | Humans | Child, Preschool | Pigmentation Disorders - pathology | Fetal Growth Retardation - genetics | Infant | Male | Developmental Disabilities - genetics | Pregnancy Trimester, Third | Developmental Disabilities - pathology | Osteochondrodysplasias - genetics | Agenesis of Corpus Callosum - genetics | Microcephaly - pathology | Female | Dwarfism - pathology | Infant, Newborn | Siblings | Genotype | Agenesis of Corpus Callosum - pathology | Fetal Growth Retardation - pathology | Pigmentation Disorders - genetics | RNA, Small Nuclear - analysis | Pregnancy | Dwarfism - genetics | Pedigree | Adolescent | Physical Examination | Consanguinity | Mutation | Hair | Growth rate | Retina | Birth | Hemorrhage | Pigmentation | snRNA | Corpus callosum | Dwarfism | Microencephaly | Vascular diseases | Biopsy | Bone dysplasia | Skeleton | Skin | Age | Melanin
Journal Article
Clinical Case Reports, ISSN 2050-0904, 2017, Volume 5, Issue 8, pp. 1213 - 1217
Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype... 
corpus callosum hypogenesis | X‐linked mental retardation | Behavioral phenotype of genetic syndromes | L1CAM mutation
Journal Article
Journal of Clinical Imaging Science, ISSN 2156-7514, 1/2018, Volume 8, Issue 1, pp. 45 - 45
Chudley-McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss... 
Brain | Nuclear magnetic resonance--NMR | Medical imaging | Abnormalities | Cognitive ability | Nervous system | Hearing protection | Hearing impairment | Patients | Proteins | Neurology | Genetic counseling | Cysts | Mutation
Journal Article