Disease #05242 (HGPPS2 (gaze palsy, horizontal, with progressive scoliosis, type-2), OMIM:617542)

Official abbreviation HGPPS2
Name gaze palsy, horizontal, with progressive scoliosis, type-2
OMIM ID 617542
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene DCC
Associated tissues brain;eyes;spine
Disease features Horizontal gaze palsy, scoliosis, intellectual disability, disorganization of white-matter tracts throughout the human central nervous system, loss of all commissural tracts at multiple levels of the neuraxis occurring with or without congenital mirror movements.
Remarks Formerly Developmental Split-Brain syndrome
Date created 2017-03-20 07:43:23 +01:00 (CET)
Date last edited 2021-12-10 23:13:51 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00101209 - PubMed: Jamuar et al 2017 offspring of 00101208 M yes Mexico Hispanic - - - - HGPPS2, MRMV1 Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia, short stature. Mirror movements. DCC DCC 1 1 Ashley Marsh
00101210 - PubMed: Jamuar 2017 offspring of 00101208 M yes Mexico Hispanic - - - - HGPPS2, MRMV1 Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Horizontal gaze palsy, intellectual disability, progressive scoliosis, global developmental delay, hypotonia. Mirror movements. DCC DCC 1 1 Ashley Marsh
00101374 - PubMed: Jamuar 2017 offspring of 00101372 and 00101373 F yes Saudi Arabia Arabic - - - - HGPPS2 Agenesis of the corpus callosum. Absence of anterior and hippocampal commissures. Hypoplastic pons and midbrain. Midline cleft of the brainstem. Global motor delay, horizontal gaze palsy, intellectual disability, scoliosis. DCC DCC 1 1 Ashley Marsh
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