.tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="a0b88c1a58e4bf9c5b38f6a068e39cfd"] { padding: 0px;margin: 0px 0px 20px 0px; } .tb-field[data-toolset-blocks-field="4ea8b03af48f0e856acd3a4fbeeba03c"] { font-size: 16px;line-height: 1.1em;color: rgba( 255, 255, 255, 1 );padding: 0px;margin: 0px; }  .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 2) { grid-column: 2 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 3) { grid-column: 3 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 0.3333fr) minmax(0, 0.3333fr) minmax(0, 0.3333fr);grid-column-gap: 10px;grid-row-gap: 10px;grid-auto-flow: row } .tb-field[data-toolset-blocks-field="696770eb8ca6d8a945549eaaff06add3"] { font-size: 15px;line-height: 1.3em;padding-top: 0px;padding-bottom: 0px;margin-top: 0px;margin-bottom: 0px; }  h4.tb-heading[data-toolset-blocks-heading="93653a5ac9f84902cbd8aa96dea90046"]  { font-size: 16px;line-height: 1.1em;color: rgba( 255, 255, 255, 1 );padding: 0px;margin: 0px; }  h4.tb-heading[data-toolset-blocks-heading="93653a5ac9f84902cbd8aa96dea90046"] a  { color: rgba( 255, 255, 255, 1 ); }  .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { border-radius: 16px 16px 0 0;background: rgba( 27, 95, 193, 1 );padding: 20px 10px 5px 10px;margin-top: 0px;margin-bottom: 0px;box-shadow: 0 10px 100px 0 rgba( 27, 95, 193, 0.16 ); } h1.tb-heading[data-toolset-blocks-heading="fe1811b807c5f987fcf2e200c76e4c92"]  { font-size: 28px;line-height: 1.3em;color: rgba( 255, 255, 255, 1 );text-align: center;padding: 0px;margin: 10px 0px 10px 0px; }  .tb-field[data-toolset-blocks-field="c3fedb55ea883b38e9445e62212d3a03"] { font-size: 28px;line-height: 1.3em;color: rgba( 255, 255, 255, 1 );padding-top: 0px;padding-right: 0px;padding-bottom: 0px;margin: 10px 0px 10px 0px; }  @media only screen and (max-width: 781px) { .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto} .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(2n + 1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(2n + 2) { grid-column: 2 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 0.5fr) minmax(0, 0.5fr);grid-column-gap: 15px;grid-row-gap: 15px;grid-auto-flow: row }    .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { background: rgba( 27, 95, 193, 1 );padding: 10px;margin-top: 0px; } h1.tb-heading[data-toolset-blocks-heading="fe1811b807c5f987fcf2e200c76e4c92"]  { font-size: 23px; }  .tb-field[data-toolset-blocks-field="c3fedb55ea883b38e9445e62212d3a03"] { font-size: 23px; }   } @media only screen and (max-width: 599px) { .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto} .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"]  > .tb-grid-column:nth-of-type(1n+1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 1fr);grid-auto-flow: row }    .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { padding: 10px 15px 10px 15px;margin-top: 0px; }    } 
LnRiLWhlYWRpbmcuaGFzLWJhY2tncm91bmR7cGFkZGluZzowfQ==
LnRiLWZpZWxke21hcmdpbi1ib3R0b206MC43NmVtfS50Yi1maWVsZC0tbGVmdHt0ZXh0LWFsaWduOmxlZnR9LnRiLWZpZWxkLS1jZW50ZXJ7dGV4dC1hbGlnbjpjZW50ZXJ9LnRiLWZpZWxkLS1yaWdodHt0ZXh0LWFsaWduOnJpZ2h0fS50Yi1maWVsZF9fc2t5cGVfcHJldmlld3twYWRkaW5nOjEwcHggMjBweDtib3JkZXItcmFkaXVzOjNweDtjb2xvcjojZmZmO2JhY2tncm91bmQ6IzAwYWZlZTtkaXNwbGF5OmlubGluZS1ibG9ja311bC5nbGlkZV9fc2xpZGVze21hcmdpbjowfQ==
4.02
Disorders of organelle biogenesis, dynamics and interaction
This group consists of heterogeneous disorders which affect the biogenesis and interaction of organelles and are usually difficult to reconduct to a specific metabolic pathway. These disorders can affect mitochondria, peroxisomes, lysosomes, organelle interplay and vesicular trafficking. Such disorders can appear during infancy or early childhood, but the age of onset can vary greatly. Between the most common symptoms it is possible to find cardiomyopathy, neutropenia, growth delay, peripheral neuropathy and intellectual disability.
This section covers rare inherited disorders of mitochondrial membrane biogenesis…
This section covers rare inherited disorders of mitochondrial and peroxisomal…
This section covers peroxisomal biogenesis disorders caused by peroxin (PEX)…
This section covers rare inherited disorders of lysosome-related organelle biogenesis,…
This section covers rare inherited disorders of organelle interplay, affecting…
This section covers rare inherited disorders of vesicular trafficking, including…