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Lissencephaly spectrum disorders

MONDO:0018838

The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.

Also known as: Lissencephaly, lissencephaly, lissencephaly (disease), lissencephaly spectrum disorders, Broad gyri of cerebrum, large gyri of cerebrum, macrogyria, pachygyria

0 clinical trials for this condition and its sub-types, 0 tagged with Lissencephaly spectrum disorders itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary neurological disease (5772) ↑ Disorder of development or morphogenesis (5170) ↑ Congenital nervous system disorder (284)

Sub-types of Lissencephaly spectrum disorders

Baraitser-Winter cerebrofrontofacial syndrome 0 trials
2 sub-types
- Baraitser-Winter syndrome 1 0 trials
- Baraitser-winter syndrome 2 0 trials
Warburg micro syndrome 0 trials
4 sub-types
- Warburg micro syndrome 1 0 trials
- Warburg micro syndrome 2 0 trials
- Warburg micro syndrome 3 0 trials
- Warburg micro syndrome 4 0 trials
X-linked lissencephaly with abnormal genitalia 0 trials
Classic lissencephaly 0 trials
4 sub-types
- Miller-Dieker lissencephaly syndrome 0 trials
- Isolated lissencephaly type 1 without known genetic defects 0 trials
- Lissencephaly due to LIS1 mutation 0 trials
- Lissencephaly type 1 due to doublecortin gene mutation 0 trials
Cobblestone lissencephaly 0 trials
2 sub-types
- Cobblestone lissencephaly without muscular or ocular involvement 0 trials
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy 0 trials
Craniotelencephalic dysplasia 0 trials
Lissencephaly 10 0 trials
Lissencephaly 7 with cerebellar hypoplasia 0 trials
Lissencephaly 8 0 trials
Lissencephaly spectrum disorder with complex brainstem malformation 0 trials
1 sub-type
- Lissencephaly 9 with complex brainstem malformation 0 trials
Lissencephaly type 3 0 trials
4 sub-types
- Neu-Laxova syndrome 0 trials Sub-types →
- Lissencephaly due to TUBA1A mutation 0 trials
- Lissencephaly type 3-familial fetal akinesia sequence syndrome 0 trials
- Lissencephaly type 3-metacarpal bone dysplasia syndrome 0 trials
Lissencephaly with cerebellar hypoplasia 0 trials
6 sub-types
- Lissencephaly with cerebellar hypoplasia type A 0 trials
- Lissencephaly with cerebellar hypoplasia type B 0 trials
- Lissencephaly with cerebellar hypoplasia type C 0 trials
- Lissencephaly with cerebellar hypoplasia type D 0 trials
- Lissencephaly with cerebellar hypoplasia type E 0 trials
- Lissencephaly with cerebellar hypoplasia type F 0 trials
Massa casaer ceulemans syndrome 0 trials
Microlissencephaly 0 trials
3 sub-types
- Norman-Roberts syndrome 0 trials
- Lissencephaly 4 0 trials
- Lissencephaly 6 with microcephaly 0 trials

Most studied deeper sub-types

Neu-Laxova syndrome 1 (0) Neu-Laxova syndrome 2 (0) Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency (0)

Including sub-types (0) Tagged with Lissencephaly spectrum disorders (0)

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