Platyspondylic Lethal Skeletal Dysplasia Type San Diego
mental retardation and hypotonia in survivors polymicrogyria Variants thanatophoric dysplasia type 1 (TD1) (MIM.187600) thanatophoric dysplasia type 2 (TD2) (thanatophoric[humpath.com]
[…] neuronal heterotopia megalencephaly cerebral gyral disorganization hippocampal malformation nuclear dysplasia abnormal axonal bundles cerebellar hypoplasia hydrocephalus profound[humpath.com]
Thanatophoric Dysplasia
mental retardation and hypotonia in survivors polymicrogyria Variants thanatophoric dysplasia type 1 (TD1) (MIM.187600) thanatophoric dysplasia type 2 (TD2) (thanatophoric[humpath.com]
[…] neuronal heterotopia megalencephaly cerebral gyral disorganization hippocampal malformation nuclear dysplasia abnormal axonal bundles cerebellar hypoplasia hydrocephalus profound[humpath.com]
Thanatophoric Dysplasia Type 1
Thanatophoric Dysplasia Type Glasgow
mental retardation and hypotonia in survivors polymicrogyria Variants thanatophoric dysplasia type 1 (TD1) (MIM.187600) thanatophoric dysplasia type 2 (TD2) (thanatophoric[humpath.com]
[…] neuronal heterotopia megalencephaly cerebral gyral disorganization hippocampal malformation nuclear dysplasia abnormal axonal bundles cerebellar hypoplasia hydrocephalus profound[humpath.com]
Micromelic Bone Dysplasia with Cloverleaf Skull
mental retardation and hypotonia in survivors polymicrogyria Variants thanatophoric dysplasia type 1 (TD1) (MIM.187600) thanatophoric dysplasia type 2 (TD2) (thanatophoric[humpath.com]
[…] neuronal heterotopia megalencephaly cerebral gyral disorganization hippocampal malformation nuclear dysplasia abnormal axonal bundles cerebellar hypoplasia hydrocephalus profound[humpath.com]