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
05611 NDD neurodevelopmental disorder (NDD) - - 4410 4229 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, 91 more - -
07255 RATARS Radio-Tartaglia syndrome 619312 AD - - SPEN - developmental delay, intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain anomalies, spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms (high anterior hairline, bitemporal narrowing, arched/sparse eyebrow, synophrys, wide set eyes/telecanthus, epicanthus, uplifted earlobe, slightly over-folded superior helices, prominent nasal tip, flattened nasal bridge, bulbous nose, anteverted nares, long philtrum with thick vermilion, teeth abnormalities, micrognathia, high/narrow palate, pointed chin), obesity/increased BMI, (espe. in females)
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