Disease: Microphthalmia With Linear Skin Defects Syndrome

Name Microphthalmia With Linear Skin Defects Syndrome

Synonyms -

Classification abdominal surgical, developmental, eye, genetic, neurological, skin

Phenotypes Abnormal cardiac septum morphology; Abnormal eyelash morphology; Abnormal facial shape; Abnormal fallopian tube morphology; Abnormal nasolacrimal system morphology; Abnormal rectum morphology; Abnormal testis morphology; Abnormality of dental enamel; Abnormality of retinal pigmentation; Abnormality of the anus; Abnormality of the nail; Absent septum pellucidum; Agenesis of corpus callosum; Ambiguous genitalia; Amblyopia; Anophthalmia; Aphasia; Arrhythmia; Blindness; Chorioretinal dysplasia; Cleft earlobe; Clitoral hypertrophy; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Dysphasia; Echolalia; Epispadias; Erythema; Failure to thrive; Feeding difficulties; Functional motor deficit; Glaucoma; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Hypospadias; Intellectual disability; Male pseudohermaphroditism; Mandibular aplasia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Mutism; Posterior embryotoxon; Respiratory distress; Respiratory failure; Retinal dysplasia; Retinal dystrophy; Retrognathia; Sacral dimple; Sclerocornea; Severe short stature; Specific learning disability; Status epilepticus; Tricuspid regurgitation; Tricuspid valve prolapse; Visual loss; Vitritis; Wide nasal bridge; Wide nose

Associated Genes COX7B , NDUFB11 (Withdrawn symbols: ESSS, NP17.3, Np15 ) , HCCS (Withdrawn symbols: CCHL, MLS )

Mouse Orthologs Cox7b (Withdrawn symbols: 1110004F07Rik, C80563 ) , Ndufb11 (Withdrawn symbols: D5Bwg0566e, D5Bwg0577e, Np15 ) , Hccs , Ndufb11b (Withdrawn symbols: 1700029P11Rik )

Source ORPHA:2556 (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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