Disease: Microphthalmia, Syndromic 6

Name Microphthalmia, Syndromic 6

Synonyms ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITAL ANOMALIES, AND ABNORMAL EXTERNAL GENITALIA , MICROPHTHALMIA AND PITUITARY ANOMALIES , MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES

Classification developmental, eye, genetic

Phenotypes Abnormality of the cervical spine; Absent speech; Adrenal hypoplasia; Anophthalmia; Anterior hypopituitarism; Aplasia of the optic tract; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Bifid scrotum; Bifid uvula; Blindness; Brachycephaly; Brachydactyly; Cerebellar hypoplasia; Cerebral cortical atrophy; Cleft palate; Clinodactyly of the 5th finger; Coloboma; Cryptorchidism; Delayed CNS myelination; Facial asymmetry; Failure to thrive; Female hypogonadism; Finger syndactyly; Flexion contracture of thumb; Global developmental delay; Hearing impairment; High forehead; High palate; Hypospadias; Hypothyroidism; Inferior vermis hypoplasia; Lambdoidal craniosynostosis; Low-set ears; Macrotia; Malar flattening; Microcephaly; Microcornea; Microglossia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Muscular hypotonia; Myopia; Nystagmus; Orbital cyst; Plagiocephaly; Posteriorly rotated ears; Preaxial hand polydactyly; Protruding ear; Psychomotor retardation; Renal hypoplasia; Retinal dystrophy; Retrognathia; Sclerocornea; Severe muscular hypotonia; Short middle phalanx of finger; Single transverse palmar crease; Small scrotum; Small sella turcica; Toe syndactyly; Uplifted earlobe; Ventriculomegaly

Associated Genes BMP4 (Withdrawn symbols: BMP2B )

Mouse Orthologs Bmp4 (Withdrawn symbols: Bmp2b, Bmp2b-1, Bmp2b1 )

Source OMIM:607932 (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

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