Rare Disease Library

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

Kaya-Barakat-Masson syndrome · KABAMAS

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Conductive deafness-ptosis-skeletal anomalies syndrome

Jackson-Barr syndrome · Conductive hearing loss-ptosis-skeletal anomalies syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Thoracolaryngopelvic dysplasia

Barnes syndrome

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome