19q13.11 microdeletion syndrome

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0000047 Hypospadias Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001057 Aplasia cutis congenita Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004326 Cachexia Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000233 Thin vermilion border Frequent (79-30%)
HP:0000276 Long face Frequent (79-30%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000958 Dry skin Frequent (79-30%)
HP:0000963 Thin skin Frequent (79-30%)
HP:0001006 Hypotrichosis Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001863 Toe clinodactyly Frequent (79-30%)
HP:0002164 Nail dysplasia Frequent (79-30%)
HP:0002205 Recurrent respiratory infections Frequent (79-30%)
HP:0002213 Fine hair Frequent (79-30%)
HP:0002558 Supernumerary nipple Frequent (79-30%)
HP:0005338 Sparse lateral eyebrow Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0006610 Wide intermamillary distance Frequent (79-30%)
HP:0008070 Sparse hair Frequent (79-30%)
HP:0010761 Broad columella Frequent (79-30%)
HP:0200102 Sparse or absent eyelashes Frequent (79-30%)
HP:0000048 Bifid scrotum Occasional (29-5%)
HP:0000154 Wide mouth Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000482 Microcornea Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0001374 Congenital hip dislocation Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0006315 Single median maxillary incisor Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID