| Category | Suggested term label | Suggested ID | Rationale/notes linked to evidence |
|---|---|---|---|
| HPO | Microcephaly | HP:0000252 | Core feature across reported families/cases; severe congenital microcephaly is repeatedly emphasized in KATNB1-related microlissencephaly/lissencephaly 6 (pqac-00000003, pqac-00000014, pqac-00000042). |
| HPO | Seizure | HP:0001250 | Seizures are reported among major presenting neurological features in affected individuals (pqac-00000003, pqac-00000037). |
| HPO | Global developmental delay | HP:0001263 | Human cases show global developmental delay / severe psychomotor impairment, with delayed walking and speech or absent milestones in several patients (pqac-00000003, pqac-00000042). |
| HPO | Lissencephaly | HP:0001339 | Disease is framed as microlissencephaly / lissencephaly 6; simplified cortical folding is central to diagnosis (pqac-00000002, pqac-00000041). |
| HPO | Simplified gyral pattern | HP:0009879 | MRI in affected individuals shows simplification of gyral folding pattern with shallow sulci (pqac-00000036, pqac-00000034). |
| HPO | Ventriculomegaly | HP:0002119 | Enlarged lateral ventricles, particularly posteriorly, are described on MRI (pqac-00000002, pqac-00000036). |
| HPO | Abnormality of the corpus callosum | HP:0001273 | Corpus callosum thinning/abnormality is repeatedly reported in neuroimaging summaries (pqac-00000000, pqac-00000036). |
| HPO | Hypertonia | HP:0001276 | Hypertonia, particularly affecting lower limbs, was reported in aggregated clinical summaries (pqac-00000000, pqac-00000042). |
| HPO | Periventricular nodular heterotopia | HP:0002136 | Periventricular/bilateral nodular heterotopia has been reported among associated cortical malformations (pqac-00000000, pqac-00000004). |
| GO | microtubule severing | GO:0051013 | KATNB1 encodes the regulatory p80 subunit of katanin, a microtubule-severing complex; this is central to current molecular understanding (pqac-00000029, pqac-00000030). |
| GO | mitotic spindle organization | GO:0007052 | KATNB1 loss causes spindle defects, abnormal mitoses, reduced spindle-pole microtubules, and aster defects (pqac-00000014, pqac-00000016, pqac-00000033). |
| GO | centriole duplication | GO:0031534 | Katnb1-null or depleted cells show excess centrioles / centriole overduplication, directly supporting this process as disease-relevant (pqac-00000014, pqac-00000027). |
| GO | cilium assembly | GO:0060271 | Supernumerary cilia / aberrant ciliogenesis are a recurring mechanistic finding in KATNB1-deficient systems (pqac-00000014, pqac-00000027, pqac-00000028). |
| GO | Hedgehog signaling pathway | GO:0007224 | Defective Hedgehog signaling with reduced GLI1/Patched expression is reported in KATNB1-deficient models (pqac-00000014, pqac-00000027). |
| GO | neuron migration | GO:0001764 | Patient-derived iPSC/organoid and mouse studies show impaired neuronal migration after KATNB1 disruption (pqac-00000016, pqac-00000028). |
| GO | neurogenesis | GO:0022008 | Loss of KATNB1 impairs neurogenesis, progenitor proliferation, and neuronal output during cortical development (pqac-00000014, pqac-00000015, pqac-00000016). |
| CL | radial glial cell | CL:0010012 | Reviews and mechanistic syntheses place disease biology in cortical radial glia / apical progenitors and neural stem-cell compartments (pqac-00000019, pqac-00000022). |
| CL | neuroepithelial cell | CL:0002319 | Early cortical neuroepithelial cells are implicated in the developmental context of KATNB1-related disease and cilium/centriole asymmetry (pqac-00000036, pqac-00000022). |
| CL | neural progenitor cell | CL:0011020 | Reduced cycling/proliferation of neural progenitors is a key mechanism across human/model evidence (pqac-00000015, pqac-00000019). |
| CL | neuron | CL:0000540 | Reduced cortical neurons and impaired neuronal migration are downstream disease mechanisms (pqac-00000016, pqac-00000028). |
| UBERON | cerebral cortex | UBERON:0000956 | Primary malformed structure; imaging shows markedly reduced cortical size and simplified gyration (pqac-00000036, pqac-00000034). |
| UBERON | lateral ventricle | UBERON:0002081 | Lateral ventricular enlargement is a consistent imaging feature (pqac-00000036, pqac-00000034). |
| UBERON | corpus callosum | UBERON:0000924 | Corpus callosum thinning/abnormality is repeatedly noted on MRI (pqac-00000000, pqac-00000036). |
| UBERON | primary cilium |  | Evidence strongly supports abnormal cilia number/ciliogenesis, but a stable UBERON ID is not confidently assigned here from available context; include as an anatomical target structure (pqac-00000014, pqac-00000027). |
| GO | centrosome | GO:0005813 | KATNB1 localizes to centrosomes and disease mechanisms include centrosome numerical/structural abnormalities; GO cellular component is more appropriate than UBERON for this subcellular structure (pqac-00000033, pqac-00000017). |
| MAXO | Antiseizure medication therapy |  | No KATNB1-specific drug regimen is established, but seizure management is a logical supportive action given recurrent epilepsy/seizures in affected individuals (pqac-00000003, pqac-00000042). |
| MAXO | Brain magnetic resonance imaging |  | MRI is central for identifying simplified gyral pattern, ventriculomegaly, and corpus callosum abnormalities in diagnosis/workup (pqac-00000036, pqac-00000012). |
| MAXO | Exome sequencing |  | WES is recommended/used for diagnosis in malformations of cortical development and specifically highlighted in consanguineous families (pqac-00000007, pqac-00000011). |
| MAXO | Genetic counseling |  | Autosomal recessive inheritance with parental heterozygosity supports counseling on recurrence risk and family planning (pqac-00000006, pqac-00000012). |
| MAXO | Physical therapy |  | Supportive rehabilitation is reasonable for severe motor impairment/hypertonia, although no disease-specific trials were identified in the retrieved evidence (pqac-00000042). |
| MAXO | Speech therapy |  | Many patients have absent or severely delayed speech; supportive speech/language intervention is therefore relevant, though not specifically studied in KATNB1 cohorts (pqac-00000042). |


*Table: This table proposes ontology mappings for phenotypes, mechanisms, cell types, anatomy, and care actions relevant to KATNB1-related cortical malformation. It is designed to support structured knowledge-base annotation while keeping suggestions tied to the available evidence.*