Features include always present findings: Delayed CNS myelination, Strabismus, Pica, and Asymmetry of the ears and others; and common findings: Low muscle tone (hypotonia), Hypertelorism, Hyperactivity, and Feeding difficulties and others. 55 total HPO annotations.

ASH1L encodes ASH1 like histone lysine methyltransferase (2,969 aa). Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. Highest expression in Brain Cerebellar Hemisphere (39.2 TPM) and Brain Cerebellum (35.0 TPM).

Intellectual disability, autosomal dominant 52 is associated with mutations in the ASH1L gene on chromosome 1.

The ASH1L protein participates in WHSC1, NSD1, SMYD2, ASH1L and WHSC1 (KMT3G), NSD1 (KMT3B), SMYD2 (KMT3C), ASH1L methylate methyl-lysine-37 of histone H3 (H3K36) pathways.

ASH1L is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for ASH1L is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 52 has been reported in the published literature.

Phenotype severity distribution: 37 always present features, 7 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 52.

12 publications have been identified in PubMed for intellectual disability, autosomal dominant 52. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (17%).