Disease #06982 (microlissencephaly (microlissencephaly))

Official abbreviation microlissencephaly
Name microlissencephaly
OMIM ID -
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2022-12-05 13:17:25 +01:00 (CET)
Date last edited N/A


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00427091 Fam1673PatIII1 PubMed: Ghosh 2020 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - microlissencephaly birth full term, weight 2990g, OFC -2SD; weight 20kg, height 125cm, OFC -3SD; no gross motor delay, no fine motor delay, no speech delay, normal social development; neonatal seizures, generalized tonic-clonic seizures (2/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism - MOCOS, RAB3GAP2, TMX2 3 1 Johan den Dunnen
00427092 Fam2525PatIII2 PubMed: Ghosh 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Pakistan - 4y - - - microlissencephaly 4y-died (seizures); birth full term, weight 3300g, OFC -3SD; weight 17kg, height 112cm, OFC -3SD; gross motor delay, no fine motor delay, no speech delay, delayed social development; 2w-seizures, generalized tonic-clonic seizures (2/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; no cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism - TMX2 1 2 Johan den Dunnen
00427093 Fam2525PatIII3 PubMed: Ghosh 2020 sister F yes Pakistan - - - - - microlissencephaly birth full term, weight 3200g, OFC -2SD; weight 10kg, height 90 cm, OFC -4SD; gross motor delay, no fine motor delay, no speech delay, normal social development; 3w-seizures, generalized tonic-clonic seizures (1/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; no cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism - TMX2 1 1 Johan den Dunnen
00427094 Fam4984PatIII1 PubMed: Ghosh 2020 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Egypt - 5y - - - microlissencephaly 5y-died (pneumonia); birth full term, weight 3100g, OFC -1SD; weight 11kg, height 92cm, OFC -4SD; gross motor delay, no fine motor delay, speech delayed (babbles), normal social development; 1m-seizures, generalized tonic-clonic seizures (1/m), refractory, EEG multifocal spike/wave; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism - TMX2 1 3 Johan den Dunnen
00427095 Fam4984PatIII3 PubMed: Ghosh 2020 sister F yes Egypt - - - - - microlissencephaly birth-36w, weight 2800g,; weight 8kg, height 75cm, OFC -3SD; gross motor delay, no fine motor delay, no speech delay, normal social development; 1m-seizures, generalized tonic-clonic seizures (1/m), refractory, EEG multifocal spike/wave; lissencephaly spectrum; no cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; cerebellar atrophy; brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; EMG normal; vision fixes/follows; hearing responds to noise; no dysmorphism - TMX2 1 1 Johan den Dunnen
00427096 Fam4984PatIII4 PubMed: Ghosh 2020 brother M yes Egypt - - - - - microlissencephaly birth-36w, weight 2900g, OFC -2SD; weight 7kg, height 65cm, OFC -4SD; no gross motor delay, no fine motor delay, speech delayed (babbles), normal social development; 6w-seizures, generalized tonic-clonic seizures (2/m), refractory, EEG multifocal spike/wave; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; EMG normal; vision fixes/follows; hearing responds to noise; no dysmorphism - TMX2 1 1 Johan den Dunnen
00427097 Fam3501PatIII6 PubMed: Ghosh 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Kuwait - - - - - microlissencephaly birth full term, weight 3100g, OFC -2SD; weight 22kg, height 110cm, OFC -4SD; gross motor delay, no fine motor delay, no speech delay, normal social development; 2m-seizures, generalized tonic-clonic seizures (4/m), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; cerebellar atrophy; brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism - TMX2 1 2 Johan den Dunnen
00427098 Fam3501PatIII7 PubMed: Ghosh 2020 sister F yes Kuwait - - - - - microlissencephaly birth full term, weight 3100g, OFC -2SD; weight 12kg, height 85cm, OFC -3SD; no gross motor delay, no fine motor delay, speech delayed, delayed social development; 2m-seizures, generalized tonic-clonic seizures (2/m), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; cerebellar atrophy; brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism - TMX2 1 1 Johan den Dunnen
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