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Intellectual disability v10.69 KDM5B Ida Ertmanska changed review comment from: PMID: 40657596 Sabetfakhri et al., 2025
Report of a de novo HET PTV (NM_006618.5 c.1708 C>T; p.R570X) in KDM5B in an 18-year-old Caucasian female patient with ASD, who then developed OCD. WISC-V Full Scale Intelligence Quotient (FSIQ) score was 73 at 15yo - borderline ID.

PMID: 39202393 Borroto et al., 2024
Study of 21 unrelated individuals with KDM5B variants (19 with a dominant het variant, and 2 with comp het biallelic variants). 16/19 dominant variants were confirmed to be de novo, 2 were inherited from an affected parent (2 unique frameshift variants), and 1 unknown.
In the 2 biallelic cases, 3/4 variants were inherited from unaffected parents (missense and nonsense), and a stop gain variant arose de novo. Mix of missense, splicing, frameshift and stop-gain variants.
Clinical details of dominant cases: 7/13 had speech delay, 8/15 had ID (1 mild, 4 moderate, and 3 with severe ID). The 2 recessive cases had mild ID. Facial dysmorphism was also common (seen in 13/19 dominant and 1 biallelic case). Overgrowth features were fairly common, with macrocephaly (6/13), obesity (10/16), and heights above the 90th percentile (7/17) noted.
Together with 6 previously reported cases, authors summarise that around 80% of dominant cases presented with DD, ID, or both. Across 10 total biallelic cases reported, 100% had ID or DD.

PMID: 37231097 Chen et al., 2023
Large scale analysis. Authors pose that KDM5B gene dosage determines clinical phenotype - HET PTV carriers show an attenuated phenotype relative to individuals with HOM KDM5B LoF mutations. Educational attainment (EDU) and verbal-numerical reasoning (VNR) were on average lower in KDM5B PTV carriers (n = 204 for EDU and n = 79 for VNR) than in noncarriers (standardized, residualized phenotype mean = −0.3669 for EDU and −0.5387 for VNR).
This was supported by studies in mice, where both cognitive and skeletal features (e.g., changes in craniofacial dimensions or transitional vertebrae) were intermediate in the het mice, compared to a severe presentation of homozygous knockout mice.

The association between AR Intellectual Disability and KDM5B was classified as Moderate in ClinGen (Intellectual Disability and Autism GCEP, Mar 2022) - AD inheritance not curated. The gene is only associated with Intellectual developmental disorder, autosomal recessive 65, OMIM:618109 in OMIM (Accessed 28th July 2026).; to: PMID: 40657596 Sabetfakhri et al., 2025
Report of a de novo HET PTV (NM_006618.5 c.1708 C>T; p.R570X) in KDM5B in an 18-year-old Caucasian female patient with ASD, who then developed OCD. WISC-V Full Scale Intelligence Quotient (FSIQ) score was 73 at 15yo - borderline ID.

PMID: 39202393 Borroto et al., 2024
Study of 21 unrelated individuals with KDM5B variants (19 with a dominant het variant, and 2 with comp het biallelic variants). 16/19 dominant variants were confirmed to be de novo, 2 were inherited from an affected parent (2 unique frameshift variants), and 1 unknown.
In the 2 biallelic cases, 3/4 variants were inherited from unaffected parents (missense and nonsense), and a stop gain variant arose de novo. Mix of missense, splicing, frameshift and stop-gain variants. Method: exome seq.
Clinical details of dominant cases: 7/13 had speech delay, 8/15 had ID (1 mild, 4 moderate, and 3 with severe ID). The 2 recessive cases had mild ID. Facial dysmorphism was also common (seen in 13/19 dominant and 1 biallelic case). Overgrowth features were fairly common, with macrocephaly (6/13), obesity (10/16), and heights above the 90th percentile (7/17) noted.
Together with 6 previously reported cases, authors summarise that around 80% of dominant cases presented with DD, ID, or both. Across 10 total biallelic cases reported, 100% had ID or DD.

PMID: 37231097 Chen et al., 2023
Large scale analysis. Authors pose that KDM5B gene dosage determines clinical phenotype - HET PTV carriers show an attenuated phenotype relative to individuals with HOM KDM5B LoF mutations. Educational attainment (EDU) and verbal-numerical reasoning (VNR) were on average lower in KDM5B PTV carriers (n = 204 for EDU and n = 79 for VNR) than in noncarriers (standardized, residualized phenotype mean = −0.3669 for EDU and −0.5387 for VNR).
This was supported by studies in mice, where both cognitive and skeletal features (e.g., changes in craniofacial dimensions or transitional vertebrae) were intermediate in the het mice, compared to a severe presentation of homozygous knockout mice.

The association between AR Intellectual Disability and KDM5B was classified as Moderate in ClinGen (Intellectual Disability and Autism GCEP, Mar 2022) - AD inheritance not curated. The gene is only associated with Intellectual developmental disorder, autosomal recessive 65, OMIM:618109 in OMIM (Accessed 28th July 2026).
Intellectual disability v10.69 KDM5B Ida Ertmanska changed review comment from: PMID: 39202393 Borroto et al., 2024
Study of 21 unrelated individuals with KDM5B variants (19 with a dominant het variant, and 2 with comp het biallelic variants). 16/19 dominant variants were confirmed to be de novo, 2 were inherited from an affected parent (2 unique frameshift variants), and 1 unknown.
In the 2 biallelic cases, 3/4 variants were inherited from unaffected parents (missense and nonsense), and a stop gain variant arose de novo. Mix of missense, splicing, frameshift and stop-gain variants.
Clinical details of dominant cases: 7/13 had speech delay, 8/15 had ID (1 mild, 4 moderate, and 3 with severe ID). The 2 recessive cases had mild ID. Facial dysmorphism was also common (seen in 13/19 dominant and 1 biallelic case). Overgrowth features were fairly common, with macrocephaly (6/13), obesity (10/16), and heights above the 90th percentile (7/17) noted.
Together with 6 previously reported cases, authors summarise that around 80% of dominant cases presented with DD, ID, or both. Across 10 total biallelic cases reported, 100% had ID or DD.

PMID: 37231097 Chen et al., 2023
Large scale analysis. Authors pose that KDM5B gene dosage determines clinical phenotype - HET PTV carriers show an attenuated phenotype relative to individuals with HOM KDM5B LoF mutations. Educational attainment (EDU) and verbal-numerical reasoning (VNR) were on average lower in KDM5B PTV carriers (n = 204 for EDU and n = 79 for VNR) than in noncarriers (standardized, residualized phenotype mean = −0.3669 for EDU and −0.5387 for VNR).
This was supported by studies in mice, where both cognitive and skeletal features (e.g., changes in craniofacial dimensions or transitional vertebrae) were intermediate in the het mice, compared to a severe presentation of homozygous knockout mice.

The association between AR Intellectual Disability and KDM5B was classified as Moderate in ClinGen (Intellectual Disability and Autism GCEP, Mar 2022) - AD inheritance not curated. The gene is only associated with Intellectual developmental disorder, autosomal recessive 65, OMIM:618109 in OMIM (Accessed 28th July 2026).; to: PMID: 40657596 Sabetfakhri et al., 2025
Report of a de novo HET PTV (NM_006618.5 c.1708 C>T; p.R570X) in KDM5B in an 18-year-old Caucasian female patient with ASD, who then developed OCD. WISC-V Full Scale Intelligence Quotient (FSIQ) score was 73 at 15yo - borderline ID.

PMID: 39202393 Borroto et al., 2024
Study of 21 unrelated individuals with KDM5B variants (19 with a dominant het variant, and 2 with comp het biallelic variants). 16/19 dominant variants were confirmed to be de novo, 2 were inherited from an affected parent (2 unique frameshift variants), and 1 unknown.
In the 2 biallelic cases, 3/4 variants were inherited from unaffected parents (missense and nonsense), and a stop gain variant arose de novo. Mix of missense, splicing, frameshift and stop-gain variants.
Clinical details of dominant cases: 7/13 had speech delay, 8/15 had ID (1 mild, 4 moderate, and 3 with severe ID). The 2 recessive cases had mild ID. Facial dysmorphism was also common (seen in 13/19 dominant and 1 biallelic case). Overgrowth features were fairly common, with macrocephaly (6/13), obesity (10/16), and heights above the 90th percentile (7/17) noted.
Together with 6 previously reported cases, authors summarise that around 80% of dominant cases presented with DD, ID, or both. Across 10 total biallelic cases reported, 100% had ID or DD.

PMID: 37231097 Chen et al., 2023
Large scale analysis. Authors pose that KDM5B gene dosage determines clinical phenotype - HET PTV carriers show an attenuated phenotype relative to individuals with HOM KDM5B LoF mutations. Educational attainment (EDU) and verbal-numerical reasoning (VNR) were on average lower in KDM5B PTV carriers (n = 204 for EDU and n = 79 for VNR) than in noncarriers (standardized, residualized phenotype mean = −0.3669 for EDU and −0.5387 for VNR).
This was supported by studies in mice, where both cognitive and skeletal features (e.g., changes in craniofacial dimensions or transitional vertebrae) were intermediate in the het mice, compared to a severe presentation of homozygous knockout mice.

The association between AR Intellectual Disability and KDM5B was classified as Moderate in ClinGen (Intellectual Disability and Autism GCEP, Mar 2022) - AD inheritance not curated. The gene is only associated with Intellectual developmental disorder, autosomal recessive 65, OMIM:618109 in OMIM (Accessed 28th July 2026).
Intellectual disability v5.156 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Intellectual disability ETFA BRIDGE consortium edited their review of ETFA
Intellectual disability ETFA BRIDGE consortium edited their review of ETFA
Intellectual disability ETFA BRIDGE consortium reviewed ETFA