x

Search for a rare disease

* (*) mandatory field

Other search option(s)

29 Result(s)

ORPHA:102009   (Group of disorders)   Classic lissencephaly

More information

Synonym(s) : Lissencephaly type 1

ORPHA:51577   (Group of disorders)   Cobblestone lissencephaly

More information

Synonym(s) : Lissencephaly type 2

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

More information

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

More information

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

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

More information

Keyword(s) : lissencephaly, type II

ORPHA:48471   (Group of disorders)   Lissencephaly

More information
ORPHA:95232   (Disorder)   Lissencephaly due to LIS1 mutation

More information

Synonym(s) : PAFAH1B1-related lissencephaly

Keyword(s) : Lissencephaly 1

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

More information

Synonym(s) : Microlissencephaly type A

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

More information

Synonym(s) : X-linked lissencephaly type 1

ORPHA:102011   (Group of disorders)   Lissencephaly type 3

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

More information
ORPHA:1083   (Disorder)   Microlissencephaly

More information
ORPHA:531   (Disorder)   Miller-Dieker syndrome

More information

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

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

More information

Keyword(s) : lissencephaly, type II

ORPHA:2671   (Disorder)   Neu-Laxova syndrome

More information

Keyword(s) : Lissencephaly, type 3

ORPHA:899   (Disorder)   Walker-Warburg syndrome

More information

Keyword(s) : lissencephaly, type II

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

More information

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