Learning, speech & behaviour: what the collected sources say

_Auto-generated summary of 30 insights in the “Learning, speech & behaviour” cluster. Rebuilt on every analysis run; every claim links back to its source._

• New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp… - A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel de novo splicing variant, c.1496 +”
• New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy… - A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”
• New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in … - A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”
• New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10… - A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”
• New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND… - A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
• New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat… - A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
• New observation reported: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le… - A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions, both novel and previously reported, were significantly enriched for dosage-sensitive genes previously associated with risk for ASD and”
• New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other … - A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a critical gene for this region.”
• The gene HNF1B comes up in 78 articles together with learning, speech and behaviour - In 78 independent articles, the gene HNF1B comes up together with learning, speech and behaviour. Association strength 0.44..
• 7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% - A source reports “70%” in the context of neurodevelopment: “7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort had a known family history of epilepsy.”
• Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significanc - A source reports “5%” in the context of neurodevelopment: “Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations in autism spectrum disorder (ASD) 22 and schizophrenia (SCZ) 38 have implicated 185 and 32 genes at a fa”
• Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 indiv - A source reports “075 individuals” in the context of neurodevelopment: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.”
• At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly - A source reports “3.0%” in the context of neurodevelopment: “At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly.”
• The gene LHX1 comes up in 22 articles together with learning, speech and behaviour - In 22 independent articles, the gene LHX1 comes up together with learning, speech and behaviour. Association strength 0.14..

Insight mix

• Phenotype expansion: 24
• Frequency / statistic: 4
• Gene–trait link: 2

Latest evidence in the collected corpus

New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel de novo splicing variant, c.1496 +”

“Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”

“This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”

“This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”

“22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”

“Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”

“Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

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This entry is version 13. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 97% · last updated 2026-11-14 16:44