Disease: Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Name Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Synonyms MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, CAROLINE CRACHAMI TYPE , MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE , MOPD III; MOPD3 , MOPD, CAROLINE CRACHAMI TYPE , MOPD, SICILIAN FAIRY TYPE , OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III

Classification bone, developmental, eye, genetic, neurological

Phenotypes Autosomal recessive inheritance; Bladder exstrophy; Cerebellar atrophy; Chorioretinal coloboma; Clinodactyly of the 5th finger; Cone-shaped epiphyses of the phalanges of the hand; Delayed cranial suture closure; Dislocation of the femoral head; Dysharmonic delayed bone age; Flat sella turcica; Generalized hypotonia; Glaucoma; High palate; High pitched voice; Hip contracture; Hypermetropia; Hypoplasia of the capital femoral epiphysis; Hypoplastic ischia; Hypoplastic pubic bone; Hypospadias; Intellectual disability; Intrauterine growth retardation; Knee flexion contracture; Kyphoscoliosis; Large sella turcica; Microcephaly; Micrognathia; Minimal subcutaneous fat; Muscular hypotonia; Narrow forehead; Oligodontia; Optic atrophy; Pectus carinatum; Photophobia; Proptosis; Severe generalized osteoporosis; Severe short stature; Slender long bone; Sloping forehead; Strabismus; Talipes; Thick upper lip vermilion; Thin long bone diaphyses; Thin upper lip vermilion; Ulnar deviation of finger

Associated Genes -

Mouse Orthologs -

Source OMIM:210730 (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:210730 by orthology to a human gene.

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