Intellectual Disability, X-linked, Syndromic 33

1. Disease Information

Overview. X-linked syndromic intellectual developmental disorder-33 (MRXS33), also called TAF1 intellectual disability syndrome or TAF1 syndrome, is an ultra-rare X-linked recessive neurodevelopmental disorder caused by hemizygous mutation of TAF1 (TATA-box binding protein associated factor 1) at Xq13.1. Affected males show global developmental delay evolving into intellectual disability, generalized hypotonia, characteristic facial dysmorphism, a highly distinctive gluteal crease anomaly with sacral caudal remnant, variable neurologic features (hearing loss, strabismus, corpus callosum hypoplasia, seizures), and — in about half of individuals with damaging missense variants — congenital heart defects. The founding description is O'Rawe et al. 2015: "We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features" (PMID:26637982, Am J Hum Genet, doi:10.1016/j.ajhg.2015.11.005).

Identifiers. | Resource | ID | |---|---| | OMIM (phenotype) | #300966 — INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33; MRXS33 (omim.org/entry/300966) | | MONDO | MONDO:0010500 — "intellectual disability, X-linked, syndromic 33" (verified via OLS this session) | | OMIM (gene) | 313650 (TAF1) | | UMLS / GTR | C4225418 (GTR condition page) | | Orphanet | No dedicated ORPHA entry found (falls under non-specific syndromic ID groupings; searched this session) | | ICD-10/ICD-11 | No disease-specific code; coded under intellectual disability (F70–F79 / 6A00) plus malformation codes |

Synonyms. MRXS33; TAF1 syndrome; TAF1/MRXS33 intellectual disability syndrome; TAF1-related neurodevelopmental disorder. Note: Abidi syndrome (historically a distinct XLID lumped at Xq12-q21) was recently shown to be TAF1-related — Han et al. 2026 found segregating TAF1 variants in the original Abidi syndrome family with functional impact (PMID:42548218).

Data derivation. All knowledge is aggregated from case series and family reports (~50–70 families cumulatively across O'Rawe 2015 [11 families], Cheng 2019 [27 additional families], Morton 2020 [26 individuals with damaging missense variants], plus single-family reports). No registry, EHR-derived cohort, or natural history study exists.

2. Etiology

Causal factor: monogenic. Hemizygous TAF1 variants in males: missense SNVs (the large majority), rare splice-site variants, a start-loss (p.Met1?, Abidi syndrome family; PMID:42548218), and ~0.42 Mb Xq13.1 duplications encompassing TAF1 (two families in O'Rawe 2015; these produce phenotypic overlap "but they also demonstrated a severe neurodegeneration phenotype"; PMID:26637982). No null (complete loss-of-function) hemizygous variants have been reported in living males; mouse data suggest nullizygosity is embryonic-lethal: "We discovered that Taf1 deletion in male mice was embryonically lethal, which may explain why no null variants have been identified in humans" (Crombie et al. 2024, Dis Model Mech; PMID:38804708).

Genetic risk factors. Being male and hemizygous; having a carrier mother (roughly half of reported variants are maternally inherited, half de novo — Morton 2020 found 14 de novo vs 12 maternally inherited damaging missense variants; PMID:32396742). Modifier genes: none identified. Susceptibility loci: none (fully penetrant Mendelian in males, so far as reported).

Environmental risk/protective factors. None known; no environmental contribution to causation has been reported. Protective factor (females): skewed X-chromosome inactivation silencing the mutant allele protects heterozygous carriers — "female carriers of TAF1 mutations and duplications demonstrate highly skewed inactivation (99:1)" (O'Rawe 2015 full text, PMID:26637982); conversely, extreme skewing toward the mutant allele can produce affected females (Vianna 2020: "XLID-potentially related variants were identified in five patients with extreme XCI skewing, including four single nucleotide variants in NLGN4X, HDAC8, TAF1, and USP9X genes"; PMID:32564284).

Gene–environment interaction. None documented.

3. Phenotypes

Frequencies below are from the founding 14-proband series (O'Rawe 2015 full text; PMID:26637982) unless noted; Cheng 2019 (PMID:31646703) added "brain morphological abnormalities, seizures, hearing loss, and heart malformations" as "prominent among previously unreported effects." Suggested HP terms need OLS verification before binding.

Quality of life. No formal QoL instrument (EQ-5D/PROMIS) study exists. Functionally dominant burdens: communication impairment (speech delay near-universal), feeding difficulty in infancy (dysphagia in ~79%), conductive/sensorineural hearing loss requiring intervention, and lifelong support needs from ID. This is a gap to record as such.

4. Genetic/Molecular Information

Gene. TAF1 — TATA-box binding protein associated factor 1; HGNC:11535 (dismech form hgnc:11535); Xq13.1; NCBI Gene 6872; Ensembl ENSG00000147133; UniProt P21675; OMIM gene 313650 (verified via HGNC REST this session). Encodes the largest subunit (1,873 aa, ~250 kDa) of the general transcription factor TFIID complex (Crombie review, PMID:39323550).

Pathogenic variants. From O'Rawe 2015 (numbering per that paper's transcript): p.Ile1337Thr (maternal), p.Cys807Arg (de novo), p.Arg1246Trp (de novo), p.Ile505Asn (de novo), a splice variant producing p.Arg1228Ilefs*16 (maternal), p.Asn1517His (de novo), p.Arg1431His (de novo), p.Pro596Ser (maternal), p.Asp976His (de novo), plus two ~0.42 Mb Xq13.1 duplications (PMID:26637982). Caution on numbering: ClinVar records the same missense variants under NM_004606.5 with shifted residue numbers (e.g., p.Ile1317Thr, RCV000203524; p.Arg1226Trp, RCV000203515; p.Lys1556Glu, RCV001027762) — a curation trap; always anchor to a stated transcript. Cheng 2019 added 27 families of largely missense variants and emphasized "the challenges for determining the pathogenicity of inherited missense variants, particularly for genes mapping to chromosome X" (PMID:31646703). Han 2026 added p.Met1? and p.Gln1429Pro (Abidi syndrome and a second XLID family; PMID:42548218). Li 2024 reported c.2233T>G segregating in a Chinese XLID pedigree (PMID:38684296). Recurrent site: p.Arg1170Cys "has been reported in four separate XLID studies" (Crombie review, PMID:39323550).

• Classification: ClinVar holds pathogenic/likely pathogenic and VUS assertions; many inherited missense variants remain contested (the central theme of PMID:31646703).
• Variant classes: missense ≫ splice-site > start-loss; duplications (CNV); no truncating/null variants in males — consistent with essentiality (PMID:38804708).
• Origin: germline; de novo and maternally inherited in roughly equal measure (PMID:32396742). Somatic TAF1 mutations occur in cancers (e.g., gastric/colorectal frameshifts, PMID:27571988) but are unrelated to MRXS33.
• Population frequency: pathogenic variants absent/ultra-rare in gnomAD; gene is strongly constrained against LoF (inferred; verify constraint metrics at gnomAD during curation).
• Functional consequence: partial loss of function / hypomorphic missense effects on TFIID assembly and partner binding (TAF7-interface variants p.Cys807Arg, p.Pro596Ser, p.Asp976His, p.Arg1246Trp "map to conserved domains critical for TAF1–TAF7 binding"; p.Cys807Arg "would destabilize the triple-barrel fold" — O'Rawe full text). Duplications act by dosage increase with a distinct, degenerative phenotype.

Modifier genes. None known. Epigenetics. X-inactivation state is the decisive epigenetic modifier in females (99:1 skewing in asymptomatic carriers, PMID:26637982; 90:10 skew detected by RNA-seq in a carrier mother, PMID:32714589). Chromosomal abnormalities. The Xq13.1 microduplications above; detectable by CMA/DECIPHER.

Allelic but distinct disorder. X-linked dystonia-parkinsonism (XDP/DYT3, OMIM 314250) is caused not by coding variants but by a ~2.6 kb SVA-F retrotransposon insertion in TAF1 intron 32, whose (CCCTCT)n hexameric repeat length inversely correlates with age of onset (Bragg 2017, PNAS; PMID:29229810). Keep XDP as a separate disease entry; it is mechanistic context, not MRXS33.

5. Environmental Information

Not applicable: no environmental, lifestyle, or infectious contributors to causation are documented for this Mendelian disorder. (Record as an explicit negative in the KB rather than leaving blank.)

6. Mechanism / Pathophysiology

Causal chain (numbered; inferential steps flagged):

1. Hemizygous TAF1 missense/splice variant (or Xq13.1 duplication) leads to altered TAF1 protein function or dosage — demonstrated at the structural level for TAF7-interface and bromodomain residues (PMID:26637982; PMID:39323550).
2. Altered TAF1 results in impaired TFIID scaffold assembly/promoter engagement and dysregulated RNA polymerase II transcription initiation — TAF1 "functions as a scaffold, contributing to the assembly and maintaining the structural integrity of TFIID" (PMID:39323550); reduced RAP74 (GTF2F1) phosphorylation in patient lymphoblasts (PMID:42548218) supports a general-transcription-machinery defect (mechanistic step partly inferred; the once-reported intrinsic kinase/HAT/ubiquitination activities of TAF1 "could not be reproduced by others and much of the related work…has been retracted" — PMID:39323550).
3. Transcriptional dysregulation leads to downregulation of specific neurodevelopmental gene programs — patient RNA-seq showed 213 differentially expressed genes (179 down), with "a significant enrichment of genes regulated by E-box proteins" (PMID:26637982); zebrafish knockout transcriptomes were "enriched for genes associated with neurodevelopmental processes" (PMID:31341187); patient-variant cells showed differential expression of "neuronal ion channel genes" and "the TAF1 variant may impair neuronal differentiation and cell proliferation" (PMID:32714589).
4. Disrupted neurodevelopmental transcription results in abnormal brain development — microcephaly, corpus callosum hypoplasia, cerebellar hypoplasia in patients (PMID:26637982; PMID:32714589); in rat, "Deletion of TAF1 lead to a hypoplasia and loss of the Purkinje cells" with "loss of pre-synaptic CaV3.1" T-type calcium channels driving "irregular cerebellar output" (PMID:31344492) (model-organism evidence; human confirmation at circuit level absent — a HUMAN_MODEL_MISMATCH candidate).
5. Abnormal brain development and neuronal dysfunction lead to the clinical phenotype: global developmental delay → intellectual disability ± ASD, hypotonia, motor abnormalities (PMID:26637982; PMID:31646703).
6. Branch (cardiac): the same transcriptional insufficiency in cardiogenesis results in congenital heart defects in ~50% of damaging-missense carriers (PMID:32396742); supported by zebrafish taf1/taf5 mutants phenocopying "cardiac and craniofacial abnormalities…through perturbations in metabolism" (PMID:37746814) and by TAF1 bromodomain inhibition in cardiomyocytes altering mitochondrial/proliferation/differentiation gene programs (PMID:36958711).
7. Branch (dosage-increase): TAF1 duplication leads to a severe, progressive neurodegenerative course rather than static ID (PMID:26637982) — direction of dosage effect matters; mechanism unknown.
8. Downstream signaling correlate (model-only, inferred): TAF1 loss in rat results in depressed BDNF/AKT/GSK3β signaling; the T-type channel enhancer SAK3 "restored the Brain-derived neurotrophic factor/protein kinase B/Glycogen Synthase Kinase 3 Beta (BDNF/AKT/GSK3β) signaling axis" (PMID:33359140).

Annotations for curation: TFIID complex (GO:0005669, suggest); RNA Pol II transcription initiation (GO:0006367, suggest); TBP binding via TAND domain; double bromodomain reading of acetylated histones ("acetylated, butyrylated and crotonylated lysines", PMID:39323550); zinc-knuckle DNA binding for promoter occupancy (PMID:29545534). Cell types: Purkinje cell (CL:0000121, suggest), cardiomyocyte, neural progenitors. Biological scale: MOLECULAR (TFIID dysfunction) → CELLULAR (impaired neuronal differentiation) → TISSUE (CC/cerebellar hypoplasia, septal defects) → ORGANISM (ID, CHD).

7. Anatomical Structures Affected

• Primary: brain (UBERON:0000955) — cerebral cortex, corpus callosum (UBERON:0002336), cerebellum (UBERON:0002037; Purkinje layer in models).
• Cardiac: heart (UBERON:0000948) — atrial/ventricular septa, outflow tract (ToF, coarctation, pulmonic stenosis) (PMID:32396742).
• Craniofacial skeleton and ears: facial dysmorphism; middle ear (chronic otitis media); cochlea/auditory pathway (hearing impairment).
• Musculoskeletal/other: generalized skeletal muscle hypotonia, joints (hypermobility), sacrococcygeal region (gluteal crease anomaly/sacral caudal remnant), oropharynx (dysphagia), eyes (strabismus, deep-set eyes).
• Subcellular: nucleus — TFIID at RNA Pol II core promoters (GO:0005634 / GO:0005669, suggest).
• Lateralization: findings are bilateral/midline; no lateralized pattern reported.

8. Temporal Development

• Onset: congenital/infantile. IUGR in a subset; hypotonia and feeding difficulty neonatally; developmental delay evident in the first year; per Cheng 2019 the syndrome "present[s] early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD)" (PMID:31646703).
• Progression: for SNV cases, largely static ID (non-degenerative); motor milestones delayed but attained variably. Exception: Xq13.1 duplication cases show "severe and progressive neurodegeneration" (PMID:26637982).
• Course pattern: chronic lifelong; seizures episodic in the affected subset.
• Critical periods: embryonic (cardiogenesis; CHD is congenital) and early postnatal neurodevelopment — in rat, Taf1 knockdown at P0 produced "a stronger phenotype…compared with at three weeks after birth" (model evidence; PMID:39323550 review of AAV-miRNA work), suggesting an early postnatal vulnerability window.
• Remission: not applicable.

9. Inheritance and Population

• Prevalence/incidence: unknown; ultra-rare. Cumulative literature ≈ 50–70 families worldwide (11 families PMID:26637982; +27 families PMID:31646703; 26 individuals in CHD cohorts PMID:32396742 with overlap unclear; plus single-family reports PMID:30805980, PMID:38684296, PMID:42548218, PMID:31341187). For dismech prevalence_class: qualitative ULTRA_RARE / CASES_IN_LITERATURE.
• Inheritance: X-linked recessive. De novo and maternally inherited variants both common. All 14 O'Rawe probands male; "All of the mutations reported here, including the duplications, are de novo or co-segregate with phenotype in affected males" (PMID:26637982 full text).
• Penetrance: apparently complete in hemizygous males for reported pathogenic variants; incomplete in females, governed by XCI. Carrier mothers typically asymptomatic with 99:1 skewing (PMID:26637982); rare symptomatic females have extreme skewing toward the mutant X (PMID:32564284) or carry variants plus cardiac/developmental findings (Crombie review, PMID:39323550).
• Expressivity: variable — "considerable pleiotropy and clinical variability" (PMID:31646703).
• Anticipation / germline mosaicism / founder effects / consanguinity: none reported. (XDP's Panay founder effect belongs to the allelic disorder, not MRXS33.)
• Carrier frequency: not established; too rare.
• Demographics: male-predominant (M≫F); families reported from North America, Europe, Japan (PMID:30805980), China (PMID:38684296), Turkey, Brazil — no ethnic clustering.

10. Diagnostics

• Primary modality: molecular genetic testing. Trio WES/WGS is the effective route (genotype-first identification dominates the literature: PMID:31646703; WGS + RNA-seq resolved a case where "the genome sequence data failed to implicate a candidate gene" — PMID:32714589). TAF1 is on XLID multigene panels (GTR; GenCC has PanelApp Australia submissions).
• CMA: detects the Xq13.1 duplications (DECIPHER-class CNVs) (PMID:26637982).
• Adjunct omics: RNA-seq of blood can reveal skewed XCI and support variant interpretation (PMID:32714589).
• XCI studies: informative for carrier-female counseling (PMID:26637982; PMID:32564284).
• Ancillary clinical work-up: brain MRI (CC hypoplasia, cerebellar hypoplasia), echocardiography (given 50% CHD in damaging-missense carriers — PMID:32396742), audiology, ophthalmology, EEG if seizures, swallow evaluation, spine MRI for the sacral anomaly (typically normal underlying anatomy — PMID:26637982).
• Biomarkers: none validated for MRXS33. (Reduced RAP74 phosphorylation is a research assay — PMID:42548218.)
• Diagnostic criteria: none published; diagnosis is molecular plus phenotype fit.
• Differential diagnosis: Cornelia de Lange–like syndromes — "Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype" (PMID:37377026; also PMID:35842780); Dubowitz syndrome phenocopies (de novo TAF1 among alternative diagnoses — PMID:33098347); other XLID syndromes (PMID:25644381); XDP in adults is clinically and mechanistically distinct.
• Newborn/carrier screening: not performed; cascade carrier testing of mothers/female relatives after proband diagnosis.

11. Outcome / Prognosis

• Survival: no systematic data. Missense-variant males generally survive into at least adolescence/adulthood in reported families (multigenerational pedigrees exist — five-generation family in PMID:31341187; Abidi syndrome family PMID:42548218). One death from "cardiopulmonary insufficiency" in a duplication case (PMID:26637982).
• Morbidity/function: lifelong intellectual disability with communication impairment; ASD in a majority of the founding series; hearing loss and chronic otitis media add communication burden; CHD subset carries surgical morbidity.
• Prognostic factors: variant class is the clearest — duplication → progressive neurodegenerative course; missense → static ID (PMID:26637982). CHD presence and severity drive early morbidity (PMID:32396742). In females, XCI ratio predicts expression (PMID:32564284).
• Recovery potential: none for the ID; developmental gains occur with age and therapy but no formal natural-history quantification exists.
• QoL measures: no published EQ-5D/SF-36/PROMIS data — record as a knowledge gap.

12. Treatment

No disease-modifying therapy exists; management is supportive and multidisciplinary. NCIT suggestions per dismech convention (verify reachability from NCIT:C25218):

Experimental (preclinical only). The T-type Ca²⁺ channel enhancer SAK3 in the rat Taf1-editing model: "Oral administration of SAK3 (0.25 mg/kg, p.o.) significantly rescued the behavior abnormalities in beam walking test and open field test caused by TAF1 gene editing" and "restored the excitatory post synaptic current (sEPSCs) in TAF1 edited Purkinje cells" (PMID:32622085); it also "restored the…BDNF/AKT/GSK3β signaling axis" (PMID:33359140). Evidence_source: MODEL_ORGANISM; no human trials. No MRXS33 clinical trials found on the standard registries during this research pass (worth re-checking ClinicalTrials.gov at curation time). Pharmacogenomics: none.

13. Prevention

• Primary prevention: none possible (genetic).
• Genetic counseling: X-linked recessive recurrence risk — 50% of sons of carrier mothers affected, 50% of daughters carriers; de novo cases carry low recurrence risk (germline mosaicism not excluded). NSGC/ACMG-standard cascade testing of maternal female relatives; XCI testing refines female risk discussion (PMID:26637982).
• Reproductive options: prenatal diagnosis and preimplantation genetic testing once the familial variant is known (standard practice for XLID; no disease-specific guideline exists).
• Secondary/tertiary: early echocardiogram and audiology after diagnosis to pre-empt CHD and hearing/language complications; otitis media surveillance.
• Population screening/immunization/public health: not applicable.

14. Other Species / Natural Disease

• Natural disease: no naturally occurring TAF1-deficiency disease is documented in companion animals or wildlife (no OMIA phene found in this research pass — verify at curation).
• Orthologs: TAF1 is deeply conserved — mouse Taf1, rat Taf1, zebrafish taf1, Drosophila Taf1, and yeast TAF1/Bdf1 function is conserved down to fungi (yeast Bdf1/TAF1 conserved roles in homologous recombination — PMID:34056863; yeast Taf1 promoter biology — PMID:32182349). The neuron-specific microexon 34′ (N-TAF1) "incorporates the same microexon" across species (PMID:39323550).
• Comparative note: embryonic lethality of complete loss is shared across zebrafish (PMID:31341187) and mouse (PMID:38804708), arguing for strong evolutionary constraint of the TFIID scaffold role.
• Zoonotic potential: not applicable.

15. Model Organisms

Resources: MGI/IMPC for Taf1 mouse alleles; ZFIN for taf1 zebrafish lines; SFARI Gene lists TAF1 as an autism candidate (gene.sfari.org).

Key Citations (PMID · first author · year · contribution)

• 26637982 O'Rawe 2015, Am J Hum Genet — founding description, 14 males/11 families, phenotype frequencies, XCI 99:1, E-box transcriptome signature (doi:10.1016/j.ajhg.2015.11.005)
• 31646703 Cheng 2019, Hum Mutat — +27 families; seizures, hearing loss, heart malformations, brain morphological abnormalities; pathogenicity challenges (doi:10.1002/humu.23936)
• 32396742 Morton 2020, Circ Genom Precis Med — CHD in 50% (13/26) of damaging missense carriers
• 39323550 Crombie 2024, R Soc Open Sci — comprehensive TAF1 review; retracted enzymatic-activity literature flagged (doi:10.1098/rsos.240790)
• 38804708 Crombie 2024, Dis Model Mech — Taf1 KO mouse; male embryonic lethality
• 31341187 Gudmundsson 2019, Sci Rep — zebrafish knockout; human mRNA rescue
• 37746814 Leid 2023, Biol Open — zebrafish taf1/taf5 cardiac/craniofacial phenocopy
• 31344492 / 32622085 / 33359140 Janakiraman 2019/2020, Dhanalakshmi 2021, Neurobiol Dis — rat model; Purkinje/CaV3.1; SAK3 rescue; BDNF/AKT/GSK3β
• 32714589 Hurst 2018, Neuronal Signal — p.Ser1600Gly; WGS+RNA-seq diagnostics; ion-channel gene dysregulation
• 42548218 Han 2026, Am J Med Genet A — Abidi syndrome is TAF1-related; reduced RAP74 phosphorylation
• 32564284 Vianna 2020, Mol Neurobiol — affected females via extreme XCI skewing
• 30805980 Okamoto 2020 · 38684296 Li 2024 · 25644381 Hu 2016 — additional families/cohorts
• 37377026 Kaur 2023 · 35842780 Coursimault 2022 · 33098347 Dyment 2021 — CdLS-like/Dubowitz differential diagnosis
• 29229810 Bragg 2017, PNAS — XDP SVA hexameric repeat (allelic disorder context)
• 36958711 Leigh 2023, BBA Mol Basis Dis — TAF1 bromodomain inhibition and CHD epigenetics

Curation caveats for this report: (1) all snippets above must be re-verified against references_cache after just fetch-reference — several were extracted through an intermediary summarization step; (2) variant residue numbering differs between O'Rawe 2015 and ClinVar NM_004606.5 records; (3) all suggested HP/GO/CL/UBERON/NCIT IDs require OLS verification; (4) the modified references_cache/DOI_10.1172_jci152297.md in this worktree is a TAB2 cardiomyopathy paper unrelated to this disease.

Sources: - OMIM #300966 — MRXS33 - ClinVar RCV000203524 — TAF1 p.Ile1317Thr - ClinVar RCV000203515 — TAF1 p.Arg1226Trp - ClinVar RCV001027762 — TAF1 p.Lys1556Glu - GTR condition C4225418 - GenCC — TAF1 / MRXS33 (PanelApp Australia) - NORD MONDO disease page - Crombie 2024 review — Royal Society Open Science - O'Rawe 2015 — PMC4678794 - Morton 2020 — PMC7329268 - Hurst 2018 — PMC7373232 - Gudmundsson 2019 — Scientific Reports - SFARI Gene — TAF1

Reference Validation

Checked with linkml-reference-validator 0.2.1.

All extracted references resolved successfully.

Term Validation

Checked with linkml-term-validator 0.4.5, through the ols: adapter.

Terms the report names something else

These identifiers resolve, so nothing about them looks wrong, and the ontology calls them something unrelated to what the report calls them. That usually means the identifier is not the one the sentence needs:

• HP:0001263 (1 mention) - the report calls it "infancy; static → ID"; HP calls it Global developmental delay
• HP:0001249 (1 mention) - the report calls it "childhood; lifelong, largely stable"; HP calls it Intellectual disability
• HP:0000750 (1 mention) - the report calls it "early childhood"; HP calls it Delayed speech and language development
• HP:0002079 (1 mention) - the report calls it "congenital"; HP calls it Hypoplasia of the corpus callosum
• HP:0000365 (1 mention) - the report calls it "childhood"; HP calls it Hearing impairment
• HP:0000486 (1 mention) - the report calls it "childhood"; HP calls it Strabismus
• HP:0000252 (1 mention) - the report calls it "congenital/postnatal"; HP calls it Microcephaly
• HP:0001382 (1 mention) - the report calls it "childhood"; HP calls it Joint hypermobility
• HP:0000729 (1 mention) - the report calls it "childhood"; HP calls it Autistic behavior
• HP:0000389 (1 mention) - the report calls it "childhood, recurrent"; HP calls it Chronic otitis media
• HP:0001250 (1 mention) - the report calls it "variable"; HP calls it Seizure
• HP:0001321 (1 mention) - the report calls it "congenital"; HP calls it Cerebellar hypoplasia

Terms whose name is worth a second look

The report's name for these is recognisably related to the term's own name without being one of them. A loose paraphrase reads the same way as a citation of the wrong sibling term - and so does a related synonym, which the ontology records precisely because it names something adjacent rather than the same thing - so these are listed rather than judged:

• UBERON:0000955 (1 mention) - the report calls it "Primary: brain"; UBERON calls it brain**
• UBERON:0000948 (1 mention) - the report calls it "Cardiac: heart"; UBERON calls it heart**, and lists "chambered heart" among its other names