Microcephalic Osteodysplastic Primordial Dwarfism, Type I (MOPD1)

Alias:

Taybi-Linder Syndrome

Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type

Microcephalic Osteodysplastic Primordial Dwarfism Types I and Iii

Microcephalic Osteodysplastic Primordial Dwarfism Type I

Low-Birth-Weight Dwarfism with Skeletal Dysplasia

Primordial Microcephalic Dwarfism, Crachami Type

Osteodysplastic Primordial Dwarfism, Type 1

Brachymelic Primordial Dwarfism

Cephaloskeletal Dysplasia

Mopd Types I and Iii

Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1

Microcephalic Osteodysplastic Primordial Dwarfism, Type 1

Primordial Microcephalic Dwarfism Crachami Type

Osteodysplastic Primordial Dwarfism, Type I

Osteodysplastic Primordial Dwarfism Type I

Mopd I

Mopd1

Mopd

Tals

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microcephalic Osteodysplastic Primordial Dwarfism, Type I, also known as taybi-linder syndrome, is related to lowry-wood syndrome and roifman syndrome, and has symptoms including seizures and dry skin. An important gene associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type I is RNU4ATAC (RNA, U4atac Small Nuclear), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and mRNA Splicing - Minor Pathway. Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：MCR240

OMIM：210710

MESH：C537577