Disease #05362 (LIS (lissencephaly))

Official abbreviation LIS
Name lissencephaly
OMIM ID -
Inheritance -
Individuals reported having this disease 72
Phenotype entries for this disease 72
Associated with 1 gene MACF1
Associated tissues -
Disease features -
Remarks -
Date created 2017-12-29 12:16:43 +01:00 (CET)
Date last edited 2023-11-27 09:41:55 +01:00 (CET)


Individuals

72 entries on 1 page. Showing entries 1 - 72.
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00146778 ? PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - FKRP FKRP 1 1 Johan den Dunnen
00146780 ? PubMed: Bouchet 2007 aborted fetus - no (France) - <0y - - - LIS - FKRP FKRP 1 1 Johan den Dunnen
00146781 ? PubMed: Bouchet 2007 aborted fetus - no (France) - <0y - - - LIS - FKRP FKRP 1 1 Johan den Dunnen
00146782 A PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - FKRP FKRP 1 1 Johan den Dunnen
00151486 ? PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - FKTN FKTN 1 1 Johan den Dunnen
00152186 17559086-Fam14 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152187 17559086-Fam15 PubMed: Bouchet 2007 2 aborted fetuses - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 2 2 Johan den Dunnen
00152188 17559086-Fam16 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 3 1 Johan den Dunnen
00152189 17559086-Fam17 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152190 17559086-Fam18 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152191 17559086-Fam19 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d - - - LIS - POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152350 - PubMed: Bouchet 2007 aborted fetus - - France - <0y - - - LIS - POMT1 POMT1 1 1 Johan den Dunnen
00152351 - PubMed: Bouchet 2007 - - - France - - - - - LIS - POMT1 POMT1 1 1 Johan den Dunnen
00152352 - PubMed: Bouchet 2007 - - - France - - - - - LIS - POMT1 POMT1 1 5 Johan den Dunnen
00152354 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 1 1 Johan den Dunnen
00152355 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152356 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152357 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152358 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152359 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 1 1 Johan den Dunnen
00152360 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152361 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152367 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152368 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152369 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT1 POMT1 2 1 Johan den Dunnen
00152480 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 1 1 Johan den Dunnen
00152481 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 1 1 Johan den Dunnen
00152482 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 2 1 Johan den Dunnen
00152483 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 2 1 Johan den Dunnen
00152484 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - LIS - POMT2 POMT2 2 1 Johan den Dunnen
00152575 21727005-Fet1/2 PubMed: Vuillaumier-Barrot 2011 2-generation family, 1 affected, unaffected parents - - - - - - - - LIS see paper; ... LARGE - - 1 Johan den Dunnen
00152636 - PubMed: Vuillaumier-Barrot 2011 - - no - - - - - - LIS 22w pregnancy termination because of reoccurrence severe quadriventricular hydrocephalus/cerebellar hypoplasia (like fetus F1); fetus dysmorphic features, horizontal narrow palpebral slit, bulging eyes, hypertrichosis cheeks/shoulders LARGE LARGE 2 1 Johan den Dunnen
00152637 - PubMed: Vuillaumier-Barrot 2011 - - no - - - - - - LIS fetus triventricular hydrocephalus, no encephalocele, no retinal dysplasia, no other visceral abnormalities LARGE LARGE 2 1 Johan den Dunnen
00320066 170677 - - M - - - - - - - LIS (+) Abnormal nervous system morphology,(+) Abnormal myelination,(+) Abnormal CNS myelination,(+) Leukodystrophy,(+) Abnormal involuntary eye movements,(+) Nystagmus,(+) Spasticity,(+) Abnormality of movement,(+) Hypogonadism,(+) Male hypogonadism,(+) CNS hypomyelination,(+) Peripheral hypomyelination,(+) Hypoplasia of the corpus callosum MACF1, TIAM1 - - 1 Andreas Laner
00458543 - - - M - - (not applicable) white - - - - LIS HP:0000276, HP:0001250, HP:0001339, HP:0010864, HP:0002187, HP:0003202, HP:0004322, HP:0009055, HP:0100807 - CEP85L 1 1 Marketa Wayhelova
00467475 LR14-088 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - India white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, moderate hemisphere hypoplasia, foliar dysplasia; birth OFC 36 cm (SD+1.1); weight 13.7 kg (SD−1.7), height 105 cm (SD−0.5), OFC 50.5 cm (SD0); global developmental delay; hypotonia; no spasticity; 1y-sit; 3y-walk; speech >40 words; severe intellectual disability; 5m-onset seizures, seizures, infantile spasm; hand flapping; cortical visual impairment, left optic-nerve hypoplasia; abnormal eye movements; left exotropia; no feeding abnormality; ventriculoseptal defect - MACF1 1 1 Johan den Dunnen
00467476 LR17-434 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 28 kg (SD+1), height 128 cm (SD0), OFC 53 cm (SD+0.7); global developmental delay; hypotonia; no spasticity; not sitting; not walking; speech 10 syllables; severe intellectual disability; 6m-onset seizures, seizures, infantile spasm, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; abnormal eye movements; exotropia; impaired feeding (gastrostomy tube) - MACF1 1 1 Johan den Dunnen
00467477 LR16-306 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 13.5 kg (SD+1.7), height 103 cm (SD−1), OFC 45.5 cm (SD−1); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, SE, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; cortical visual impairment; normal eye movements; impaired feeding (gastrostomy tube) - MACF1 1 1 Johan den Dunnen
00467478 LR17-450 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Poland white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem thick tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; birth OFC 31 cm (SD−1); weight 14 kg (SD−3), height 116 cm (SD−1), OFC 47 cm (SD+0.5); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, myoclonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality - MACF1 1 1 Johan den Dunnen
00467479 LR04-067a1 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States white;Hispanic - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; 32.5 cm (SD−1.5); weight 35.2 kg (SD−3), height 150 cm (SD−2), OFC 49.5 cm (SD−4); global developmental delay; hypotonia; spasticity; 1y-sit; 5y-walk; speech 3 words; severe intellectual disability; 7m-onset seizures, focal seizure with impaired awareness, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; nystagmus horizontal - MACF1 1 1 Johan den Dunnen
00467480 LR04-067a2 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States white;Hispanic - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 29.0 kg (SD−4), height 137 cm (SD−4), OFC 47.7 cm (SD−5); global developmental delay; hypotonia; spasticity; not sitting; not walking; speech 3 words; severe intellectual disability; 5m-onset seizures, focal seizure with impaired awareness, focal tonic-clonic seizure, generalized tonic-clonic seizure; mixed dyskinesia; no vision abnormalities; esotropia - MACF1 1 1 Johan den Dunnen
00467481 LR18-077 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Syria white - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 22 kg (SD−0.4), height 50 cm (SD−2); global developmental delay; hypotonia; spasticity (legs); 1y6m-sit; 7y-walks few steps; no speech; severe intellectual disability; 6m-onset seizures, probable generalized tonic-clonic seizure; mixed dyskinesia; eye movements slow tracking; no feeding abnormality; dysmorphic (hypertelorism, low nasal bridge, epicanthal folds, low-set ears) - MACF1 1 1 Johan den Dunnen
00467482 LR18-070 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Japan Asia - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), subtle hippocampal dysplasia, thin white matter; thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum no vermis hypoplasia, no hemisphere hypoplasia, foliar dysplasia; birth OFC 33.5 cm (SD+0.4); weight 10.0 kg (SD−1.6), height 82.5 cm (SD−1.6), OFC 47.2 cm (SD−0.4); global developmental delay; no hypotonia; no spasticity; 1y-sit; 3y-walk with support; no speech; severe intellectual disability; 5y-onset seizures, myoclonic seizure, generalized tonic-clonic seizure; hand waving; eye movements abduction limited (ocular abduction limited to half normal excursion); no feeding abnormality - MACF1 1 1 Johan den Dunnen
00467483 LR16-412 PubMed: Dobyns 2018, Journal: Dobyns 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Philippines white;Asia - - - - LIS see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), subtle hippocampal dysplasia, thin white matter; normal anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, normal pons, subtle wide pons/medulla, normal base of pons, no pontine hypoplasia; cerebellum normal vermis, normal hemisphere, no foliar dysplasia; weight 20.4 kg (SD+0.7), height 107.9 cm (SD−0.1), OFC 51.3 cm (SD0); mild developmental delay; no hypotonia; no spasticity; 7m-sit; 1y6m-walk; 1y6m-speech; severe intellectual disability; 4y3m-onset seizures, focal seizure with impaired awareness, generalized tonic-clonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality - MACF1 1 1 Johan den Dunnen
00467520 HLMS13 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS moderate-severe hearing loss - CDH23 1 1 Hina Khan
00467521 HLRBS9 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS severe hearing loss - CDH23 1 1 Hina Khan
00467522 HLMS34 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS moderate-severe hearing loss - CLDN14 1 1 Hina Khan
00467523 HLMS37 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS severe hearing loss - LOXHD1 1 1 Hina Khan
00467524 HLMS05 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS severe hearing loss - MYO15A 1 1 Hina Khan
00467525 HLRBS17 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS moderate-severe hearing loss - MYO15A 1 1 Hina Khan
00467526 SPK10 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS severe hearing loss - OTOF 1 1 Hina Khan
00467527 HLRBS8 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS moderate-severe hearing loss - PTPRQ 1 1 Hina Khan
00467528 SPK3 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS profound hearing loss (progressive) - SLC26A4 1 1 Hina Khan
00467529 HLMS10 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS severe hearing loss - SLC26A4 1 1 Hina Khan
00467530 HLRBS20 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS severe hearing loss, asymmetric - SLC26A4 1 1 Hina Khan
00467531 HLMS02 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS moderate-severe hearing loss (progressive) - SLC26A4 1 1 Hina Khan
00467532 HLMS12 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS moderate-severe hearing loss - SLC26A4 1 1 Hina Khan
00467533 HLRBS19 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS severe hearing loss - SLC26A4 1 1 Hina Khan
00467534 SPK4 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS severe hearing loss - SLC26A4 1 1 Hina Khan
00467535 SPK12 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS severe hearing loss - SLC26A4 1 1 Hina Khan
00467536 HLMS23 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS severe hearing loss - SLC26A4 1 1 Hina Khan
00467537 HLMS38 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS moderate hearing loss, asymmetric - SLC26A4 1 1 Hina Khan
00467538 HLMS26 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - LIS moderate-severe hearing loss - SLC26A4 1 1 Hina Khan
00467539 SPK13 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS severe hearing loss - MYO15A, TOR1AIP1 3 1 Hina Khan
00467540 HLMS33 PubMed: Khan 2024, Journal: Khan 2024 family F yes Pakistan - - - - - LIS moderate hearing loss - CHD7, OTOA 2 1 Hina Khan
00467541 HLMS09 PubMed: Khan 2024, Journal: Khan 2024 family F yes Pakistan - - - - - LIS severe hearing loss - ATP6V1B2, COCH 2 1 Hina Khan
00467542 IPK1 PubMed: Khan 2024, Journal: Khan 2024 family F yes Pakistan - - - - - LIS severe hearing loss - COL4A3 1 1 Hina Khan
00467543 HPK7 PubMed: Khan 2024, Journal: Khan 2024 family M yes Pakistan - - - - - LIS severe hearing loss - MYO7A, NCOA3 2 1 Hina Khan
00467544 HLMS03 PubMed: Khan 2024, Journal: Khan 2024 family M yes Pakistan - - - - - LIS moderate-severe hearing loss - CA5B, MYH14 2 1 Hina Khan
00467545 SPK14 PubMed: Khan 2024, Journal: Khan 2024 family M yes Pakistan - - - - - LIS severe hearing loss - SLC12A2 1 1 Hina Khan
00467546 HLRBS16 PubMed: Khan 2024, Journal: Khan 2024 family M yes Pakistan - - - - - LIS severe hearing loss - EIF5B 1 1 Hina Khan
00467547 HLMS04 PubMed: Khan 2024, Journal: Khan 2024 family F yes Pakistan - - - - - LIS moderate-severe hearing loss - FAM78B 1 1 Hina Khan
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