modern wellness · Symptom

Lissencephaly

🩺 HPO Source

HPO ID

HPO Label

Lissencephaly

HPO Definition

A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.

HPO Curator Comment

Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci.

🔤 Synonyms (1)

Synonyms

Fewer or absent grooves in brain

🔗 Cross-References (3)

SNOMEDCT_US204036008

UMLSC0266463

UMLSC1879312

🔼 Broader Terms (1)

HP:0002536Abnormal cortical gyration

🏥 Conditions where Lissencephaly appears

40 · bridged via HPO ↔ OMIM

syndrome OMIM 617822

Alkuraya-Kucinskas Syndrome

syndrome OMIM 208085

Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome

freq: HP:0040283 ev: IEA

syndrome OMIM 208085

Arthrogryposis, Renal Dysfunction, And Cholestasis 1

freq: HP:0040283 ev: IEA

syndrome OMIM 613404

Arthrogryposis, Renal Dysfunction, And Cholestasis 2

freq: HP:0040283 ev: TAS

syndrome OMIM 614583

Baraitser-Winter Syndrome 2

freq: 7/7 ev: TAS

syndrome OMIM 607432

Classical Lissencephaly

syndrome OMIM 614039

Cortical Dysplasia, Complex, With Other Brain Malformations 1

syndrome OMIM 615411

Cortical Dysplasia, Complex, With Other Brain Malformations 3

syndrome OMIM 610031

Cortical Dysplasia, Complex, With Other Brain Malformations 7

syndrome OMIM 243310

Fryns-Aftimos Syndrome

syndrome OMIM 253800

Fukuyama Type Congenital Muscular Dystrophy

syndrome OMIM 606812

Fumarase Deficiency

freq: 1/2 ev: PCS

syndrome OMIM 606812

Fumaric Aciduria

freq: 1/2 ev: PCS

syndrome OMIM 617729

Galloway-Mowat Syndrome 3

disease OMIM 612938

Growth Retardation, Developmental Delay, Coarse Facies, And Early Death

freq: 3/8 ev: PCS

syndrome OMIM 300215

Hydranencephaly And Abnormal Genitalia

syndrome OMIM 615219

Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies

freq: 4/4 ev: IEA

syndrome OMIM 243310

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

syndrome OMIM 611603

Lissencephaly 3

syndrome OMIM 614019

Lissencephaly 4

freq: 2/4 ev: PCS

disease OMIM 616212

Lissencephaly 6 With Microcephaly

syndrome OMIM 616342

Lissencephaly 7 With Cerebellar Hypoplasia

freq: 10/10 ev: PCS

syndrome OMIM 257320

Lissencephaly Syndrome, Norman-Roberts Type

freq: 6/6 ev: PCS

syndrome OMIM 300067

Lissencephaly, X-Linked, 1

syndrome OMIM 300215

Lissencephaly, X-Linked, 2

syndrome OMIM 614499

Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly

syndrome OMIM 618142

Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome

freq: 1/3 ev: PCS

syndrome OMIM 604317

Microcephaly, Primary Autosomal Recessive, 2 (Disorder)

syndrome OMIM 614833

Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures

freq: 1/6 ev: PCS

syndrome OMIM 247200

Miller Dieker Syndrome

freq: 27/27 ev: PCS

syndrome OMIM 615249

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12

freq: HP:0040283 ev: TAS

syndrome OMIM 613153

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5

freq: 1/1 ev: PCS

syndrome OMIM 614643

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7

syndrome OMIM 256520

Neu-Laxova Syndrome

syndrome OMIM 256520

Neu-Laxova Syndrome 1

syndrome OMIM 616038

Neu-Laxova Syndrome 2

freq: 3/7 ev: PCS

syndrome OMIM 614883

Peroxisome Biogenesis Disorder 11A (Zellweger)

syndrome OMIM 614883

Peroxisome Biogenesis Disorder, Complementation Group H

syndrome OMIM 617507

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome

freq: 3/3 ev: PCS

syndrome OMIM 251290

Pseudo-Torch Syndrome