All individuals with variants in gene ALDH18A1

20 entries on 1 page. Showing entries 1 - 20.
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00049909 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Jordan - >02y06m - - - DBS;ADCL initial diagnosis wrinkly skin syndrome (WSS); thin translucent skin, hip dislocation?, adducted thumb, no osteopenia, Wormian bones?, no brain anomalies, no cranial vessel tortuosity, autism?, no brisk reflexes; normal face 1 1 Johan den Dunnen
00049913 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Finland - >02y11m - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, Wormian bones, brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes, foramen magnum stenosis; dysmorphic face (HP:0001999) 1 1 Johan den Dunnen
00049914 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Netherlands - >02y - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, Wormian bones, no brain anomalies, cranial vessel tortuosity, autism, brisk reflexes, oramen magnum stenosis, shallow sella turcica; dysmorphic face (HP:0001999) 1 1 Johan den Dunnen
00049915 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - >06y - - - DBS;ADCL initial diagnosis connective tissue disorder; thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, brisk reflexes?, os odontoideum, disharmonic bone age; dysmorphic face (HP:0001999) 1 1 Johan den Dunnen
00049916 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - Mexico - >04y - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes; dysmorphic face (HP:0001999) 1 1 Johan den Dunnen
00049917 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - United Arab Emirates - >13y - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, no osteopenia, no Wormian bones, brain anomalies?, no cranial vessel tortuosity, autism?, brisk reflexes?; dysmorphic face (HP:0001999) 1 1 Johan den Dunnen
00049918 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs F - United States - >03y - - - DBS;ADCL initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, no adducted thumb, osteopenia?, no Wormian bones, no brain anomalies, cranial vessel tortuosity, autism?, no brisk reflexes; dysmorphic face (HP:0001999) 1 1 Johan den Dunnen
00049919 - PubMed: Fischer-Zirnsak 2015, Journal: Fischer-Zirnsak 2015 2-generation family, 1 affected, unaffected non-carrier parents/sibs M - United States - >03y - - - DBS;ADCL initial diagnosis cutis laxa; thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, no brisk reflexes; dysmorphic face (HP:0001999) 1 1 Johan den Dunnen
00290186 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 90 Mohammed Faruq
00290187 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 79 Mohammed Faruq
00290188 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00304275 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00374103 - PubMed: Lefebvre 2021 fetus M - France - - - - - ? 27w-fetus, ultrasound intrauterine growth retardation, shortened long bones, corpus callosum agenesis, cerebellar hypoplasia; autopsy Cutis laxa, corpus callosum agenesis, mineralisation delay; Corpus callosum agenesis and gyration delay previously undescribed 2 1 Johan den Dunnen
00374595 S-4432 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374651 S-2634 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00385509 17001521 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00419581 8005 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00428057 Pat80256;R80184 PubMed: Kumar 2022, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - 04y - - - ? see paper; ..., 4y-died pneumonia/respiratory failure; intrauterine growth retardation; birth 39w, weight 2640 g, length 49 cm, OFC 33.5 cm, bilateral congenital cataract, multiple small haemangiomas; muscular hypotonia, developmental delay, severe failure to thrive, microcephaly; MRI brain hypoplasia corpus callosum, lack of insular opercularization, reduced myelination; drug-resistant epilepsy; 2y6m muscle biopsy normal; severe global developmental delay, dyskinetic movement disorder, epilepsy 2 1 Johan den Dunnen
00465815 Fam2 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Cutis laxa, visible veins, sparse hair and facial dysmorphism (progeroid appearance, prominent forehead, midface hypoplasia, prominent mandible, an upturned nose with hypoplastic alae nasi and large low-set ears) cataract, laryngomalacia, seizure disorder, severe global developmental delay, hypotonia, feeding difficulties and poor postnatal growth, scoliosis, inguinal hernia, out-turned lower extremities, talipes equinovarus, atrial septal defect secundum 1 1 Johan den Dunnen
00465816 Fam3 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Skin and joint laxity, facial dysmorphism (triangular face, congenital cataract, hypertelorism, short nose, low-set ears, long philtrum, and small chin), Wormian bones, camptodactyly of the thumbs, genu valgum, ventricular septal defect 1 1 Johan den Dunnen
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