Disease #00302 (ACLS;JBTS-12 (acrocallosal syndrome; (ACLS, Joubert syndrome, type 12 (JBTS-12))), OMIM:200990)

Official abbreviation ACLS;JBTS-12
Name acrocallosal syndrome; (ACLS, Joubert syndrome, type 12 (JBTS-12))
OMIM ID 200990
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene KIF7
Associated tissues -
Disease features -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00004260 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - ACLS;JBTS-12 Vermis: molar tooth sign; Corpus callosum: agenesis; Lower limb polydactyly: preaxial right; Mental retardation, facial dysmorphism KIF7 KIF7 2 1 Tania Attie-Bitach
00004261 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - ACLS;JBTS-12 Vermis: molar tooth sign; Corpus callosum: agenesis; Temporal pachygyria, malformed hippocampus; Upper limb polydactyly: postaxial right and left; Mental retardation, macrocephaly, large fontanelle, depressed and wide nasal bridge, short philtrum, bilateral optic atrophy, ventricular septal defect KIF7 KIF7 2 1 Tania Attie-Bitach
00004262 - PubMed: Putoux 2011 Non-consanguineous family ? no Turkey - - - - - ACLS;JBTS-12 Vermis: molar tooth sign; Corpus callosum: agenesis; Wide ventricles; Upper limb polydactyly: postaxial right and left; Lower limb polydactyly: postaxial right and left; Mental retardation, hypotonia, macrocephaly, prominent forehead, hypertelorism, wide nasal bridge, short philtrum, high palate, nail dystrophy KIF7 KIF7 2 1 Tania Attie-Bitach
00004263 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - ACLS;JBTS-12 Vermis: molar tooth sign; Corpus callosum: thin; Wide ventricles, hypomyelinization; Upper limb polydactyly: cutaneous syndactyly; Lower limb polydactyly: postaxial right and left, cutaneous syndactyly; Mental retardation, hypotonia, macrocephaly, prominent forehead, hypertelorism, depressed and wide nasal bridge, short philtrum, congenital hypothryroidism KIF7 KIF7 2 1 Tania Attie-Bitach
00004264 - PubMed: Putoux 2011 consanguineous family ? yes Pakistan - - - - - ACLS;JBTS-12 Corpus callosum: agenesis; Wide ventricles, poor frontal cortical development; Upper limb polydactyly: postaxial right and left; Lower limb polydactyly: preaxial and postaxial right and left; Mental retardation, macrocephaly, frontal bossing, hypertelorism, broad nasal bridge, notched nasal tip, low-set ears KIF7 KIF7 2 1 Tania Attie-Bitach
00004265 - PubMed: Putoux 2011 consanguineous family: ? ? ? Finland - - - - - ACLS;JBTS-12 Corpus callosum: agenesis; Upper limb polydactyly: postaxial right and left; Lower limb polydactyly: postaxial right and left; Mental retardation, macrocephaly, broad forehead, hypertelorism, peri-orbital fullness, wide nasal bridge, high palate, micrognathia KIF7 KIF7 2 1 Tania Attie-Bitach
00004266 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - ACLS;JBTS-12 Vermis: molar tooth sign; Corpus callosum: thin?; Para-callosal cyst; lower limb polydactyly: preaxial; Mental retardation, hypertelorism, dental anomalies (teeth loss, implantation anomalies), retrognatism KIF7 KIF7 2 1 Tania Attie-Bitach
00004267 - PubMed: Putoux 2011 consanguineous family ? yes Egypt - - - - - ACLS;JBTS-12 Vermis: molar tooth sign; Corpus callosum: agenesis; Upper limb polydactyly: postaxial left; Lower limb polydactyly: preaxial; Cleft palate; Mental retardation, macrocephaly, hypertelorism KIF7 KIF7 2 1 Tania Attie-Bitach
00004271 - PubMed: Putoux 2011 - ? ? - - - - - - ACLS;JBTS-12 - KIF7 KIF7 1 1 Tania Attie-Bitach
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