All individuals with variants in gene AAAS

18 entries on 1 page. Showing entries 1 - 18.
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00290756 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295567 - - - F - - - - - - - ? Abnormality of the curvature of the vertebral column (HP:0010674); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Hip dysplasia (HP:0001385); Abnormality of the esophagus (HP:0002031); Achalasia (HP:0002571); Scoliosis (HP:0002650); Abnormality of the hip bone (HP:0003272); Demyelinating peripheral neuropathy (HP:0007108); Sensorimotor neuropathy (HP:0007141) 1 1 Andreas Laner
00374172 R-4266 PubMed: Ganapathy 2019 - - - India - - - - - ? Features suggestive of AAA syndrome 1 1 Johan den Dunnen
00374173 S-3752 PubMed: Ganapathy 2019 - - - India - - - - - ? Decreased lacrimation, adrenal insufficiency and achalasia 1 1 Johan den Dunnen
00410752 FamPat29 PubMed: Macke 2022 4-generation family, affected sister/brother , unaffected heterozygous carrier parents/relatives M - United States - - - - - AAAS see paper; ..., lacrima, achalasia, anejaculation, optic atrophy, muscle weakness, dysarthria, autonomic dysfunction 2 1 Johan den Dunnen
00412364 Fam8 PubMed: Halvardson 2016 - F - Sweden - - - - - NDD mild intellectual disability, initially fever induced epilepsy, generalized tonic clonic seizures, hyperactivity, only speaks a few words, microcephaly, valgus feet, hypertelorism, asymmetric facial features , large maxilla, strabismus 1 1 Johan den Dunnen
00423275 FamIPatI1 PubMed: Yildirim 2022 family, two affected F - Turkey - - - - - AAAS 3y3m-adrenal insufficiency; neonatal onset alacrima; 3y5m-onset achalasia; hyperreflexia, learning disability, muscle weakness, delayed walking, nasal speech, excessive sweating; multiple dental caries, atrophy of the thenar/hypothenar muscles 1 2 Johan den Dunnen
00423276 FamIPatI2 PubMed: Yildirim 2022 relative F - Turkey - - - - - AAAS 6y9m-adrenal insufficiency; neonatal onset alacrima; 3y-onset achalasia; learning disability, muscle weakness, delayed walking, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis 1 1 Johan den Dunnen
00423277 FamIIPatI1 PubMed: Yildirim 2022 family, two affected F - Turkey - - - - - AAAS 7y2m-adrenal insufficiency; neonatal onset alacrima; muscle weakness, delayed walking, delayed speech; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles 1 2 Johan den Dunnen
00423278 FamIIPatI2 PubMed: Yildirim 2022 relative F - Turkey - - - - - AAAS 3y-adrenal insufficiency; neonatal onset alacrima; 3y3m-onset achalasia; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles 1 1 Johan den Dunnen
00423279 FamIIIPatI1 PubMed: Yildirim 2022 family, two affected F - Turkey - - - - - AAAS 2y5m-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; excessive sweating; palmoplantar hyperkeratosis, 1 2 Johan den Dunnen
00423280 FamIIIPatI2 PubMed: Yildirim 2022 relative F - Turkey - - - - - AAAS neonatal onset alacrima; 1y9m-onset alacrima; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating 1 1 Johan den Dunnen
00423281 FamIVPatI1 PubMed: Yildirim 2022 family, two affected M - Turkey - - - - - AAAS 3y-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; hyperreflexia, delayed walking, delayed speech nasal speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, short stature 1 2 Johan den Dunnen
00423282 FamIVPatI2 PubMed: Yildirim 2022 relative F - Turkey - - - - - AAAS neonatal onset alacrima; 3y9m-onset alacrima; delayed walking, muscle weakness, delayed speech; multiple dental caries, short stature 1 1 Johan den Dunnen
00423283 FamVPatI1 PubMed: Yildirim 2022 family, 1 affected M - Turkey - - - - - AAAS 5y-adrenal insufficiency; neonatal onset alacrima; 9y-onset achalasia; hyperreflexia, muscle weakness, delayed speech, nasal speech, excessive sweating; multiple dental caries, short stature 1 1 Johan den Dunnen
00423284 FamVIPatI1 PubMed: Yildirim 2022 family, 1 affected F - Turkey - - - - - AAAS 3y-adrenal insufficiency; neonatal onset alacrima; 4y-onset achalasia; hyperreflexia, learning disability; short stature 1 1 Johan den Dunnen
00423285 FamVIIPatI1 PubMed: Yildirim 2022 family, 1 affected M - Turkey - - - - - AAAS 2y7m-adrenal insufficiency; neonatal onset alacrima; hyperreflexia, nasal speech, epilepsy; multiple dental caries, atrophy of the thenar/hypothenar muscles 1 1 Johan den Dunnen
00423286 FamVIIIPatI1 PubMed: Yildirim 2022 family, 1 affected M - Turkey - - - - - AAAS 3y-adrenal insufficiency; neonatal onset alacrima; 11y3m-onset achalasia; hyperreflexia, muscle weakness, nasal speech, optic atrophy; multiple dental caries 1 1 Johan den Dunnen
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