All individuals with variants in gene INTS1

8 entries on 1 page. Showing entries 1 - 8.
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00081356 FamINTS1Pat1 Mancini, NVHG2016, PubMed: Oegema 2017 2-generation family, unaffected heterozygous carrier parents F no Netherlands - - - - - ID see paper; ..., abnormal gait, renal anomaly, distinctive facial features with hypertelorism, prominent forehead/glabella, broad nasal bridge, downward slanted eyelids, wide spaced incisors or cleft lip/palate, juvenile cataract, sternum abnormality, short stature, overlapping toes; severe global developmental delay (HP:0011344); no speech (HP:0001344) 1 1 Johan den Dunnen
00081357 FamINTS1Pat2 Mancini, NVHG2016, PubMed: Oegema 2017 2-generation family, unaffected heterozygous carrier parents M - Netherlands - - - - - ID see paper; ..., abnormal gait, renal anomaly, distinctive facial features with hypertelorism, prominent forehead/glabella, broad nasal bridge, downward slanted eyelids, wide spaced incisors or cleft lip/palate, juvenile cataract, sternum abnormality, short stature, overlapping toes; severe global developmental delay (HP:0011344); no speech (HP:0001344) 1 1 Johan den Dunnen
00164989 family 1 PubMed: Krall 2019, Journal: Krall 2019 - - - - - - - - - DD see paper; ..., severe developmental delays with absent speech, cataracts and microphthalmia, facial anomalies with wide-set eyes, broad nasal bridge, down-turned corners of the mouth, pectus deformity and abnormal thumbs 2 1 Anne Slavotinek
00164990 patients 3 and 4 PubMed: Krall 2019, Journal: Krall 2019 - - - - - - - - - DD see paper; ..., gait with increased tone; developmental delays/autism; facial anomalies with wide-set eyes, downslanting palpebral fissures, a flat nasal bridge and micrognathia; cataracts 2 2 Anne Slavotinek
00164991 patient 5 PubMed: Krall 2019, Journal: Krall 2019 - - - - - - - - - DD see paper; ..., Failure to thrive with short stature; feeding difficulties and hypotonia in infancy; cataracts; frontal bossing; renal pelvicaliectasis; developmental delays 3 1 Anne Slavotinek
00229847 FamINTS1Pat3 PubMed: Oegema 2017 2-generation family, unaffected heterozygous carrier parents M no Netherlands - - - - - ID see paper; ..., profound intellectual disability, lack of speech development, motor impairment, seizures, specific dysmorphic features face and limbs 1 1 Johan den Dunnen
00399246 Pat5 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - ID see paper; ..., prenatal period unremarkable, birth 40wweight 4,150 g (95P), length 53 cm (72P), OFC 36 cm (80P); neonatal unremarkable; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech single words, few two-word sentences; MRI brain normal; lack of distance toward adults, reduced interaction with other children, strong searching for physical contact, mood changes with aggressive behavior and attention deficits; muscle unremarkable; walking; no seizures; no craniofacial dysmorphism; EEG normal; hyporeflexia, simian crease on both hands 2 1 Johan den Dunnen
00448216 Pat120 PubMed: Poli 2024 - F - Chile - - - - - ? intellectual disability-moderate; short stature; hyperbilirubinemia; acanthosis nigricans; precocious puberty; parental consanguinity 1 1 Johan den Dunnen
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