Rare Disease Library

Lisch epithelial corneal dystrophy

Band-shaped and whorled microcystic dystrophy of the corneal epithelium · LECD

Lissencephaly

Lissencephaly due to LIS1 mutation

PAFAH1B1-related lissencephaly

Lissencephaly due to TUBA1A mutation

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

Lissencephaly type 1 due to doublecortin gene mutation

X-linked lissencephaly type 1

Lissencephaly type 3

Lissencephaly type 3-familial fetal akinesia sequence syndrome

Lissencephaly type 3-metacarpal bone dysplasia syndrome

Lissencephaly with cerebellar hypoplasia

LCH

Lissencephaly with cerebellar hypoplasia type A

Lissencephaly with cerebellar hypoplasia type B

Lissencephaly with cerebellar hypoplasia type C

Lissencephaly with cerebellar hypoplasia type D

Lissencephaly with cerebellar hypoplasia type E

Lissencephaly with cerebellar hypoplasia type F

Listeriosis

Listeria infection

Locked-in syndrome

Pseudocoma · LIS

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Classic lissencephaly

Lissencephaly type 1

Cobblestone lissencephaly

Lissencephaly type 2

Cobblestone lissencephaly without muscular or ocular involvement

Cobblestone lissencephaly without muscular or eye involvement · Lissencephaly type 2 without muscular or eye involvement

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Lissencephaly type 2 with muscular and ocular involvement · MDDGA

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

Adult intestinal botulism

Adult intestinal colonization botulism · Adult intestinal toxemia botulism

Alopecia totalis

Alopecia universalis

Amino acid or protein metabolism disease with epilepsy

Amniotic fluid embolism

Anonychia congenita totalis

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal CMT due to copper metabolism defect

Benign paroxysmal torticollis of infancy

Botulism

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Mild calf-predominant myopathy

Chronic respiratory distress with surfactant metabolism deficiency

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital syphilis

Mother-to-child transmission of syphilis · MTCT of syphilis

Dementia pugilistica

Boxer's dementia · Chronic traumatic encephalopathy

Digitalis poisoning

Disorder of amino acid and other organic acid metabolism

Disorder of asparagine metabolism

Disorder of beta and omega amino acid metabolism

Disorder of bilirubin metabolism and excretion

Disorder of biogenic amine metabolism and transport