Monogenic hearing loss

Gene: GLI3

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#146510:Pallister-Hall syndrome[Short stature; Intrauterine growth retardation; Simple auriclesAbsent external auditory canalsMicrotiaPosteriorly rotated ears; Microphthalmia; Short noseFlat nasal bridgeAnteverted nares; Multiple buccal frenulaMicroglossiaCleft lip and palate; Natal teeth; Ventricular septal defectProximal aortic coarctation; Patent ductus arteriosus; Laryngeal cleftBifid epiglottisHypoplastic epiglottis; Abnormal lung lobation; Fused ribs; Imperforate anus; Micropenis; CryptorchidismTesticular hypoplasia; Renal dysplasiaRenal ectopia; Hemivertebrae; Dislocated hips; Distal shortening of limbsRadial subluxation; Postaxial polydactylyOligodactylyShort 4th metacarpalsSyndactyly; SyndactylyPostaxial polydactyly; Midline facial capillary hemangioma; Nail dysplasia; Holoprosencephaly (less common)Hypothalamic hamartomaPituitary aplasia or dysplasia; PanhypopituitarismAdrenal gland hypoplasiaThyroid dysplasia/aplasia]; #174200:Polydactyly, postaxial, types A1 and B[Postaxial polydactyly (bilateral, sometimes extra digits are well formed and articulated)Preaxial polydactyly (bilateral or unilateral)Triphalangeal thumb (in some patients)Syndactyly (in some patients)Broad thumbs (in some patients); Postaxial polydactylyPreaxial polydactylySyndactyly (in some patients); Caused by mutation in the GLI-Kruppel family member GLI3 gene (GLI3,)]; #174700:Polydactyly, preaxial, type IV[Preaxial polydactyly; Mild thumb duplication; Syndactyly fingers 3 and 4; First or second toe duplication; Syndactyly of all toes; Crossed polydactyly type I; Abnormal earlobes; Dysplastic distal thumb phalanges with a central hole]; #175700:Greig cephalopolysyndactyly syndrome[MacrocephalyScaphocephalyTrigonocephaly; High foreheadFrontal bossing; HypertelorismDownslanting palpebral fissures; Broad nasal root; Umbilical hernia; Inguinal hernia; Advanced bone age; Broad late closing cranial suturesCraniosynostosisMetopic synostosis (rare); Postaxial polydactylyBroad thumbsSyndactyly (usually fingers 3 and 4)Preaxial polydactyly (variable)Camptodactyly; Preaxial polydactylyBroad hallucesSyndactyly (usually toes 1 to 3)Postaxial polydactyly (rare)Camptodactyly; Normal intelligenceMental retardation, mild (rare)HydrocephalyAgenesis of corpus callosum; Translocation or deletions involving 7p13 (severe case reports)]; #241800:{Hypothalamic hamartomas, somatic}[Hypothalamic hamartoma; Hydrocephalus; Brain stem glioma; Posterior encephalocele; Skeletal dysplasia; Micromelia; Short ribs; Dislocated hips; Postaxial polydactyly; Congenital heart defect; Pulmonary hypoplasia; Renal dysplasia; Micropenis; Hypopituitarism; Midline cleft lip; Short nose; Alveolar frenula; Macrocephaly; Abnormal auricles; Flattened nasal bridge; Microglossia; Micrognathia; Cleft palate; Infantile death usual]

Publications

• PMID:10077605
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