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30 Result(s)

ORPHA:102009   (Group of disorders)   Classic lissencephaly

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Synonym(s) : Lissencephaly type 1

ORPHA:51577   (Group of disorders)   Cobblestone lissencephaly

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Synonym(s) : Lissencephaly type 2

ORPHA:352682   (Disorder)   Cobblestone lissencephaly without muscular or ocular involvement

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Synonym(s) : Lissencephaly type 2 without muscular or eye involvement ; Lissencephaly type 2 without muscular or ocular involvement ; Cobblestone lissencephaly without muscular or eye involvement

ORPHA:352687   (Group of disorders)   Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

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Synonym(s) : Lissencephaly type 2 with muscular and ocular involvement

ORPHA:272   (Disorder)   Congenital muscular dystrophy, Fukuyama type

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Keyword(s) : lissencephaly, type II

ORPHA:1084   (Disorder)   Isolated lissencephaly type 1 without known genetic defects

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ORPHA:48471   (Group of disorders)   Lissencephaly

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ORPHA:95232   (Disorder)   Lissencephaly due to LIS1 mutation

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Synonym(s) : PAFAH1B1-related lissencephaly

Keyword(s) : Lissencephaly 1

ORPHA:171680   (Disorder)   Lissencephaly due to TUBA1A mutation

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ORPHA:89844   (Subtype of disorder)   Lissencephaly syndrome, Norman-Roberts type

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Synonym(s) : Microlissencephaly type A

ORPHA:2148   (Disorder)   Lissencephaly type 1 due to doublecortin gene mutation

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Synonym(s) : X-linked lissencephaly type 1

ORPHA:102011   (Group of disorders)   Lissencephaly type 3

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ORPHA:86821   (Disorder)   Lissencephaly type 3-familial fetal akinesia sequence syndrome

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ORPHA:86822   (Disorder)   Lissencephaly type 3-metacarpal bone dysplasia syndrome

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ORPHA:86823   (Group of disorders)   Lissencephaly with cerebellar hypoplasia

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ORPHA:100011   (Disorder)   Lissencephaly with cerebellar hypoplasia type A

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ORPHA:100012   (Disorder)   Lissencephaly with cerebellar hypoplasia type B

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ORPHA:100013   (Disorder)   Lissencephaly with cerebellar hypoplasia type C

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ORPHA:100014   (Disorder)   Lissencephaly with cerebellar hypoplasia type D

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ORPHA:100015   (Disorder)   Lissencephaly with cerebellar hypoplasia type E

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ORPHA:100016   (Disorder)   Lissencephaly with cerebellar hypoplasia type F

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ORPHA:1083   (Disorder)   Microlissencephaly

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ORPHA:50810   (Disorder)   Microlissencephaly-micromelia syndrome

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ORPHA:531   (Disorder)   Miller-Dieker syndrome

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Synonym(s) : Lissencephaly due to 17p13.3 deletion

ORPHA:588   (Disorder)   Muscle-eye-brain disease

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Keyword(s) : lissencephaly, type II

ORPHA:2671   (Disorder)   Neu-Laxova syndrome

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Keyword(s) : Lissencephaly, type 3

ORPHA:102010   (Group of disorders)   Other syndrome with lissencephaly as a major feature

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ORPHA:572013   (Disorder)   Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome

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ORPHA:899   (Disorder)   Walker-Warburg syndrome

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Keyword(s) : lissencephaly, type II

ORPHA:452   (Disorder)   X-linked lissencephaly with abnormal genitalia

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Synonym(s) : X-linked lissencephaly with ambiguous genitalia ; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome ; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome