Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies

American Journal of Medical Genetics

Volumn 73, Issue 2, 1997, Pages 184-188

  Jonas, Roy E ^a   Kimonis, Virginia E ^a   Morales, Augusto ^a  

^a SOUTHERN ILLINOIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Atypical corpus callosum partial agenesis; Developmental delay; Hypotonia; Inborn errors of metabolism; Macrocrania; Myelination disorders; Pontine hypoplasia; White matter degeneration

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEGENERATION; CASE REPORT; CHILD; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; DUANE RETRACTION SYNDROME; ECTOPIC URETER; FEMALE; FRONTAL BOSSING; GROWTH RETARDATION; HUMAN; HYPERTELORISM; INBORN ERROR OF METABOLISM; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SIBLING; WHITE MATTER;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; GENES, RECESSIVE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; NERVE TISSUE; NUCLEAR FAMILY; PONS; SYNDROME;

RAPHIA FRATER;

EID: 0030831849     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971212)73:2<184::AID-AJMG14>3.0.CO;2-M     Document Type: Article

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