Disease #05281

Official abbreviation PSS
Name syndrome, Potocki-Shaffer (PSS, chromosome 11p11.2 deletion syndrome (P11pDS))
OMIM ID 601224
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 0 genes -
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00174827 - - - M - - - - 0 - - PSS Global developmental delay Generalized hypotonia Seizures Brachycephaly Macrocephaly Prominent metopic ridge Abnormal facial shape - PHF21A 1 1 Kohei Hamanaka
00174828 - - - M ? - - - 0 - - PSS Global developmental delay Prominent metopic ridge - PHF21A 1 1 Kohei Hamanaka
00174829 - - - M - Norway - - 0 - - PSS Global developmental delay Generalized hypotonia Macrocephaly Abnormal facial shape - PHF21A 1 1 Kohei Hamanaka
00174858 22770980-PatDGAP012 PubMed: Hyung-Goo 2012 - M - United States white - 0 - - PSS intellectual disability, facial dysmorphism, narrow nose, downturned mouth, large ears, brachycephaly, microcephaly, myopia, strabismus, heart defect, hypotonia, small hands and feet, digitalized thumbs, retinal dystrophy; no multiple exostoses, no parietal foramina, no tapering fingers ELAVL1, PHF21A ELAVL1, PHF21A 4 1 Johan den Dunnen
00174859 22770980-PatMCN1762 PubMed: Hyung-Goo 2012 - F - United States white - 0 - - PSS intellectual disability, facial dysmorphism, narrow nose, downturned mouth, brachycephaly, microcephaly, myopia, hypotonia; no large ears, no strabismus,no heart defect, no small hands and feet, no multiple exostoses, no parietal foramina, no tapering fingers, no digitalized thumbs, no retinal dystrophy PHF21A PHF21A 4 1 Johan den Dunnen
00174861 22770980-PatGILLE PubMed: Fantes 2008 - F - Pakistan - - 0 - - PSS intellectual disability, facial dysmorphism, narrow nose, mild craniofacial asymmetry and thin corpus callosum, hypoplasia of inferior cerebellar vermis, nystagmus, hypotonia, iris hypoplasia, superior atypical coloboma, foveal hypoplasia; no large ears, no multiple exostoses, no parietal foramina ARHGAP6, PHF21A ARHGAP6, PHF21A 2 1 Johan den Dunnen
00174862 22770980-PatGM03316 PubMed: Hyung-Goo 2012 - F - Venezuela - - 0 - - PSS 3y-intellectual disability, strikingly unusual dysmorphology syndrome including epicanthus, hypertelorism, oblique palpebral fissures, trigonocephaly, micrognathia; 5y-vocabulary progressing well, good memory, quantitative intelligence 3yr-old girl, inability to concentrate, feed herself when wished; 3y6m-gained control sphincters both day/night; shy, easily frightened, was clumsy with both hands and legs PHF21A PHF21A 1 1 Johan den Dunnen
00174863 22770980-PatGC14361 PubMed: Hyung-Goo 2012 - M - Bangladesh - - 0 - - PSS 6m-static encephalopathy, developmental delay; microcephaly, short stature, small phallus, unilateral absent testis, dysmorphic features including short forehead, prominent biparietal foramina, midline parietal cortical defect, flat midface, flat occiput, sensorineural hearing loss, epicanthal folds, protuberant ears, bulbous nasal tip continued below columella, depressed nasal root, small mouth and small chin (micrognathia), hypotonia, slight pectus excavatum, recurrent otitis media, slender fingers PHF21A PHF21A 1 1 Johan den Dunnen
00174864 22770980-PSS02 PubMed: Hyung-Goo 2012 - ? - - - - 0 - - PSS PSS, intellectual disability,craniofacial anomalies PHF21A PHF21A 1 1 Johan den Dunnen
00174865 22770980-PSS08 PubMed: Hyung-Goo 2012 - - - - - - 0 - - PSS PSS, intellectual disability, craniofacial anomalies PHF21A PHF21A 1 1 Johan den Dunnen
00174866 22770980-PSS-Romeike PubMed: Hyung-Goo 2012 - M - Belgium - - 0 - - PSS PSS, intellectual disability, craniofacial anomalies; 31y-microcephaly, brachycephaly, broad forehead, long narrow nose, hypoplastic mandible, very thin lips, hypotelorism, dysplastic low set ears, no speech PHF21A PHF21A 1 1 Johan den Dunnen
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