Rare Disease Library

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ELOVL4-related neuro ichthyosis · Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital infiltrating lipomatosis of the face

CIL-F · Facial infused lipomatosis

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Congenital insensitivity to pain with severe intellectual disability

Congenital absence of pain with severe intellectual disability · Congenital analgesia with severe intellectual disability

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

SCN9A-related congenital insensitivity to pain

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis · Congenital absence of pain with hyperhidrosis

Congenital intestinal disease due to an enzymatic defect

Congenital intestinal transport defect

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

Congenital isolated ACTH deficiency

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

Congenital joint dislocations

Congenital knee dislocation

Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Congenital lactase deficiency

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type

Congenital laryngeal cyst

Congenital laryngeal palsy

Congenital vocal cord paralysis

Congenital laryngomalacia

Congenital left ventricular aneurysm

Congenital lethal erythroderma

Congenital lethal myopathy, Compton-North type

Congenital limb malformation

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

CLIFAHDD syndrome

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

Congenital lobar emphysema

Congenital lobar hyperinflation · Infantile lobar hyperinflation

Congenital long QT syndrome

Congenital LQTS

Congenital macroglossia

Congenital malformation of the eye with glaucoma as a major feature

Congenital malformation of the eyelid

Congenital megacalycosis

Congenital megaprepuce

Isolated congenital buried penis

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Alloimmune neonatal renal disease · FMAIG

Congenital mesoblastic nephroma

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Congenital microcoria

Congenital miosis

Congenital microgastria

Congenital mitral malformation

Congenital mitral stenosis

Congenital mitral valve insufficiency and/or stenosis

Congenital multicore myopathy with external ophthalmoplegia

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Lissencephaly type 2 with muscular and ocular involvement · MDDGA

Congenital muscular dystrophy

CMD · MDC

Congenital muscular dystrophy due to dystroglycanopathy

CMD due to dystroglycanopathy

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

Congenital muscular dystrophy type 1B

CMD1B · MDC1B