LAMA1 and ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome: We searched the whole rare disease dataset (73,988 genomes) for pathogenic alleles in LAMA1 and identified 2 probands (GEL-01 and GEL-02) with rare, pathogenic biallelic changes in LAMA1 (Fig. 1, Tables 1 and 2, Supplementary Figs 5 and 6) and brain MRI phenotypes consistent with PTBHS (Supplementary Figs 7 and 8).