All individuals with variants in gene PHGDH

10 entries on 1 page. Showing entries 1 - 10.
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00016941 - PubMed: Shaheen 2014 2-generation family, 2 affected/2 spontaneous abortions, unaffected heterozygous carrier parents, sister died immediately after birth F yes Saudi Arabia Saudi 00y00m00d 0 - - NLS1 born vaginally, died immediately after birth, very small for gestational age and had severe microcephaly (records of actual growth parameters at birth could not be retrieved), micrognathia, bulging eyes with absent eyelids, severe ichthyosis of the skin, cleft lip and palate on the right side, a very flat nose, a very short neck, and generalized edema. Also had extremely abnormal limbs with hypoplastic forearms and no discernible digits in the upper or lower limbs. 1 2 Marianne Vos (LOVD-team)
00016942 - PubMed: Shaheen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents ? yes Saudi Arabia Saudi 00y00m00d 0 - - NLS1 born preterm 29w after an uneventful vaginal delivery. Antenatal ultrasounds at both 19 and 24w of gestation showed polyhydramnios, curved vertebrae, protruded eyes, an open mouth, low-set ears, a short and broad neck, microcephaly, generalized skin edema (especially of the trunk and scalp), abnormally flexed hands, extended crossed feet with a rocker-bottom appearance, and fetal akinesia. Postnatal screening for congenital infection was inconclusive. Postnatal examination revealed massive body swelling and marked disfigurement of the face and limbs, which appeared engulfed by a thin and shiny membrane (Figure S1B). The eyes were small, fixed, and widely spaced and showed supraorbital massive cystic swelling bilaterally. The nose was completely flat and obliterated, and the mouth was large and fixed open with massively swollen lips. The neck was extremely short. The ear lobules were edematous with tight overlying skin. The trunk was short and shiny with visible veins. The baby exhibited a fixed-flexion appearance with generalized contractures. The massively edematous hands and feet had no discernible digits. A skeletal survey showed defaced and overlapping cranial bones with severe softtissue edema. Thoracic, vertebral, pelvic, and other tubular bones had no major skeletal defects 1 1 Marianne Vos (LOVD-team)
00016943 - PubMed: Shaheen 2014 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia Saudi 00y01m 0 - - NLS1 delivered vaginally at term with thick meconium-stained liquor. Birth weight was 2.24 kg. The baby was evidently jaundiced with generalized colloidonlike ichthyosis. He was microcephalic (head circumferenceof 27.5 cm) with a sloping forehead, a broad nose, large ears, a short neck, spastic long fingers, and fixed contractures of the extremities. He succumbed to pneumonia and pseudomonas sepsis and died at 1 month of age. 1 1 Marianne Vos (LOVD-team)
00180172 29286531-Pat24 PubMed: TumienÄ— 2018 - - - (Slovenia) - - 0 - - ? (Pharmacoresistant severe) epileptic encephalopathy (HP:0200134), cerebral palsy (HP:0100021), profound global developmental delay (HP:0012736), microcephaly (HP:0000252). Head MRI: cerebral atrophy (HP:0002283). 2 1 Johan den Dunnen
00289502 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295965 3 - - F no Australia - 00y01m01d00h 0 - - NLS1 HP:0000340, HP:0000470, HP:0000369, HP:0000347, HP:0001511, HP:0000252, HP:0001838, HP:0008064 1 1 Fatima Abdelfattah
00295966 - - - M yes Iran - - 0 - - NLS1 HP:0001371, HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0012472, HP:0000347, HP:0000520, HP:0000252, HP:0001339, HP:0001321, HP:0006101, HP:0001838, HP:0002650, HP:0008064, HP:0002089, HP:0001770, HP:0003241 1 1 Fatima Abdelfattah
00299923 - - - F no France white 00y00m00d00h - - - NLS1 HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000218, HP:0000347,HP:0003196, HP:0000463, HP:0007651,HP:0000518, HP:0000252, HP:0001339, HP:0001321, HP:00012714, HP:0000238, HP:0002514, HP:0001371, HP:0001762, HP:0005684, HP:0010557,HP:0008064,HP:0003241 1 1 Fatima Abdelfattah
00300227 - - - F ? Canada pakistan 00y00m00d23h - - - NLS1 HP:0002126, HP:0001562, HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0000347, HP:0000316, HP: 0000445, HP:0008551, HP:0000520, HP:0000518, HP:0000252, HP:0001339, HP:0001321, HP:00012714, HP:0002119, HP:0001371, HP:0001838, HP:0000954, HP:0008064, HP:0000951, HP:0001196, HP:0002514, HP:0002089, HP:0003241 1 1 Fatima Abdelfattah
00408103 209 PubMed: Alabdullatif 2017 - M yes United Arab Emirates - - 0 - - retinal disease 6 months old male infant was born with prenatal course complicated by IUGR. At birth he was found to have microcephaly and generalized ichthyosis. At age of 3 weeks he was hospitalized due to decrease activity and poor feeding and found to have anemia that required blood transfusion. He also hand development delay, spasticity, microcephaly, short stature, failure to thrive, and distinctive facial features (hypertelorism, depressed nasal bridge, micrognathia, long smooth philtrum). Brain MRI showed brain atrophy and hypomyelination. Serine and glycine were low in plasma and CSF. Parents were from the same area and he had 4 healthy siblings. 1 1 LOVD
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