All individuals with variants in gene SMARCD1

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00228226 Pat1 PubMed: Nixon 2019 - F - Japan - - - - - ? see paper; ..., developmental delay, delayed walking, intellectual disability, hypotonia, esophageal atresia, bronchial fistula,feeding and sucking difficulties, sparse hair, external ear malformation, hearing loss, malformation of ossicle, hypoplastic fifth toenails, no teeth anomalies, high palate, cleft soft palate 1 1 Johan den Dunnen
00228227 Pat2 PubMed: Nixon 2019 - M - France - - - - - ? see paper; ..., developmental delay, delayed walking (17m), delayed speech (sentences), intellectual disability, no hypotonia, agenesis corpus callosum, macrosomia; MRI 1m complete agenesis corpus callosum; tube feeding during first 2w, no problem after; low hairline, upturned, thick ear lobes, no hearing loss, short hands, slender fingers, no teeth anomalies 1 1 Johan den Dunnen
00228228 Pat3 PubMed: Nixon 2019 - M - United Kingdom (Great Britain) - - - - - ? see paper; ..., developmental delay, delayed walking (2y), speech not attained (some sign language), intellectual disability, hypotonia, ankyloglossia (operated), MRI-brain normal, slow feeder (slow with milk and solids), gastroesophageal reflux, low hairline, upturned earlobes, mild bilateral hearing loss, small hands and feet; small, rounded teeth, pointed canines; frontal bossing, long eyebrows, plagiocephaly 1 1 Johan den Dunnen
00228229 Pat4 PubMed: Nixon 2019 - M - Northern Ireland white - - - - ? see paper; ..., developmental delay, walking not attained, speech not attained, intellectual disability, hypotonia; mild hydronephrosis on antenatal USS; MRI-brain several normalities; ongoing, nasogastric feeding followed by fundoplication and PEG tube, gastroesophageal reflux; temporal hair deficiency; ears low-set, thickened, simple shape; no hearing loss; thick, loose palmar and plantar skin, small hands and feet, short fifth fingers; thick, stubby teeth, delayed eruption, thick gums; broad, square face; temporal narrowing; flat nasal bridge; short nose; very prominent philtral pillars; hypertelorism, divergent squint; wide mouth with downturned corners; thick gums; high palate; "jowly", myopathic appearance; undescended testes 1 1 Johan den Dunnen
00228230 Pat5 PubMed: Nixon 2019 - F - United States European;Germany - - - - ? see paper; ..., developmental delay, 15m-walking, delayed speech (18m-words, 27m 2-3 word phrases), no hypotonia; 22m MRI-brain nonspecific, small right frontal subcortical white matter FLAIR hyperintensity; gastroesophageal reflux in infancy, difficulty with regulating self-feeding; normal hair, normal ears; no hearing loss; normal hands/feet; no teeth anomalies; prominent metopic suture, bulbous nasal tip, bifid uvula with normal palate, facial asymmetry 1 1 Johan den Dunnen
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