Phenotypes for disease #06982 (microlissencephaly (microlissencephaly))

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Phenotype details     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Owner     
Individual ID     
0000318108 microlissencephaly NEDMCMS 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 Familial, autosomal recessive 11y - - - Johan den Dunnen 00427091
0000318109 microlissencephaly NEDMCMS 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 Familial, autosomal recessive 7y - - - Johan den Dunnen 00427092
0000318110 microlissencephaly NEDMCMS 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 Familial, autosomal recessive 5y - - - Johan den Dunnen 00427093
0000318111 microlissencephaly NEDMCMS 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 Familial, autosomal recessive 4y - - - Johan den Dunnen 00427094
0000318112 microlissencephaly NEDMCMS 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 Familial, autosomal recessive 2y - - - Johan den Dunnen 00427095
0000318113 microlissencephaly NEDMCMS 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 Familial, autosomal recessive 1y - - - Johan den Dunnen 00427096
0000318114 microlissencephaly NEDMCMS 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 Familial, autosomal recessive 8y - - - Johan den Dunnen 00427097
0000318115 microlissencephaly NEDMCMS 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 Familial, autosomal recessive 6y - - - Johan den Dunnen 00427098
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.