Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Name Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Synonyms BRACHYMELIC PRIMORDIAL DWARFISM , CEPHALOSKELETAL DYSPLASIA , LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA , MOPD I; MOPD , OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I , TAYBI-LINDER SYNDROME; TALS

Classification bone, developmental, eye, genetic, neurological

Phenotypes 11 pairs of ribs; Abnormality of the pinna; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Atrial septal defect; Autosomal recessive inheritance; Bowed humerus; Brachydactyly; Cleft vertebral arch; Coarctation of aorta; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dry skin; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Failure to thrive; Femoral bowing; Gray matter heterotopia; Hip contracture; Hip dislocation; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Intellectual disability; Intrauterine growth retardation; Knee flexion contracture; Large hands; Limb undergrowth; Long clavicles; Long foot; Low-set ears; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Oligohydramnios; Pachygyria; Platyspondyly; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Renal cyst; Renal hypoplasia; Seizure; Short femur; Short humerus; Short metacarpal; Short neck; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Stillbirth; Tetralogy of Fallot

Associated Genes RNU4ATAC (Withdrawn symbols: RNU4ATAC1, U4atac )

Mouse Orthologs -

Source OMIM:210710 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

No mouse models associated with OMIM:210710 by orthology to a human gene.

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