All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
07272 LESKRES Lessel-Kreienkamp syndrome 619149 AD 45 45 EIF2C2 - delayed speech development (0.97), intellectual disability (0.97), motor delay (0.93), impaired receptive language (0.81), muscular hypotonia (0.69), autistic traits (0.58), attention deficit hyperactivity disorder (0.56), gait abnormalities (0.52), MRI brain structural abnormalities (0.44); dysmorphic features , epicanthic folds (0.52), thin upper lip (0.48), open mouth appearance (0.48), congenital craniofacial anomalies (0.40)
05611 NDD neurodevelopmental disorder (NDD) - - 4815 4635 ACBD6, ADARB1, AP1G1, ARFGEF1, ATG12, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CHKA, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, 95 more - -
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