All individuals with variants in gene WDR83OS

14 entries on 1 page. Showing entries 1 - 14.
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00408490 Pat8;Fam3PatII2 PubMed: Rahimi 2022, PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France Morocco - - - - NDD see paper; ..., no prenatal issues, birth 39w, SVD, weight 3100 g (18%), height 47 cm (6%), OFC 33 cm (5%); 12m-sit; >26m-walk; 26m-single words; global developmental delay; no hypotelorism, no hypertelorism; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; 1st fingers shortening, hypertrichosis, premature thelarche, low hairline, bilateral epicanthus, long eyelashes, bulbous nose, hat-shaped mouth, ogival palate, short neck, low implanted thumbs, deep palmar crease, clinodactyly of 5th fingers, overlapping of the toes, hirsutism on the back, limbs, and toes; intellectual disability; hypotonia; hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; MRI brain normal; ultrasound liver dysmorphic hepatomegaly with increased elasticity measurements (mean velocity 1.3m/s), hepatic hilar lymph nodes swelling, with slight effusion recto-uterine pouch 1 1 Johan den Dunnen
00457253 BAB11420 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes United States Turkey - - - - NDD see paper; ..., no prenatal issues, birth 38w, C-section, weight 2750 g (10%), height 48cm (21%), OFC 34cm (20%); 2y-sit; 4y-walk; 5y-single words; global developmental delay; normal eyebrows; hypotelorism; normal palpebral fissures; strabismus; ptosis; prominent philtrum; thin upper lip; no tented mouth; micrognathia; Synophrys; intellectual disability; hypotonia; weak motor strength; normal reflexes; seizures; hepatomegaly; liver dysfunction; intractable itching (pruritus); mild recurrent pancreatitis; feeding difficulty; gastresophageal reflux; steatorrhea; chronic diarrhea; gallstones; no gastrostomy tube; no undescended testicles; mild pelviectasis; recurrent respiratory infections; no recurrent skin infections; MRI brain normal 1 1 Johan den Dunnen
00457254 Fam7PatIV1;Fam2PatII1 PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - NDD see paper; ..., birth 42w, C-section, weight 1640 g (-3.4 SD), height 43 cm (-2.9 SD), OFC 31 cm (2.6 SD); no neonatal jaundice; global developmental delay; normal eyebrows; hypotelorism; normal palpebral fissures; no strabismus; no ptosis; prominent philtrum; thin upper lip; no tented mouth; everted lower lip; prognathia; open mouth; post axial polydactyly, periauricular skin tag, gum/alveolar hypertrophy, high arched palate, single palm crease; intellectual disability; hypotonia; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; no gallstones; 1 3 Johan den Dunnen
00457255 Fam7PatIV2;Fam2PatII2 PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 brother M yes Saudi Arabia - - - - - NDD see paper; ..., birth 42w, SVD, weight 2720 g (9%), height 48 cm (21%), OFC 35.5 cm (43%); no neonatal jaundice; 4y-walk; global developmental delay; normal eyebrows; hypotelorism; downslanting palpebral fissures; ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; prognathia; open mouth; gum/alveolar hypertophy, high arched palate, single palm crease; intellectual disability; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; gallstones; undescended testicles; MRI brain normal 1 1 Johan den Dunnen
00457256 Fam7PatIV6;Fam2PatII6 PubMed: Maddirevula 2019, PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - NDD see paper; ..., birth 40w, SVD, weight 2725 g (9%), height 49 cm (42%), OFC 31 cm (-3 SD); no neonatal jaundice; 3y-walk; 2y-single words; global developmental delay; arched eyebrows; hypotelorism; prominent philtrum; no thin upper lip; everted lower lip; prognathia; open mouth; frontal bossing, long eyelashes, large mouth, sagged cheeks; intellectual disability; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; no gallstones; 1 1 Johan den Dunnen
00457258 Fam4PatII1 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Ethiopia - - - - - NDD see paper; ..., gestational maternal diabetes, birth 41w, C-section, weight 3315 g (25%), height 52 cm (62%); no neonatal jaundice; 2y-sit; 32m-walk; 2y-two words; global developmental delay; thick eyebrows; no hypotelorism, no hypertelorism; upslanting palpebral fissures; no strabismus; no ptosis; no thin upper lip; tented mouth; everted lower lip; micrognathia; open mouth; Bilateral epicanthal folds, long lashes, depressed nasal bridge, bifid, short and wide columella, prominent fetal pads, 5th finger, bilateral clinodactyly, prominent heels; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; hand twisting; no seizures; no hepatomegaly; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; no recurrent respiratory infections; no recurrent skin infections; 1 1 Johan den Dunnen
00457259 Fam5PatII2 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Eritrea - - - - - NDD see paper; ..., no prenatal issues, birth 41w+5, labor induction, vaginal delivery, weight 4675 g (+2.3 SD), height 55 cm (96%), 38 cm (94%); no neonatal jaundice; 2y-sit; not yet walking; no speech; global developmental delay; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; ptosis; prominent philtrum; no thin upper lip; tented mouth; no everted lower lip; no micro-/retro-/pro-gnathia; Broad forehead, broad nasal bridge/tip, hypermobility; intellectual disability; hypotonia; weak motor strength; normal reflexes; no movement abnormalities; weak social interaction, autistic features; no seizures; increased echo on liver ultrasound; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea, chronic obstipation; gallstones; no gastrostomy tube; MRI brain ventricular system mildly marked, otherwise nothing pathological; beta-thalassemia minor, F-Calpotectin 121 1 1 Johan den Dunnen
00457260 Fam6PatII2 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - NDD see paper; ..., no prenatal issues, birth 40w, SVD, weight 3200 g (20%), height 52 cm (67.31%), OFC 36 cm (75%); neonatal jaundice; 18m-sit; not yet walking; no speech; moderate global developmental delay; arched eyebrows; hypotelorism; abnormal palpebral fissures; strabismus; no ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; micrognathia; open mouth; Bilateral epicanthus, high arch palate, tongue tie, metopic craniosynostosis, small teeth, contracture of fingers; intellectual disability; mild hypotonia; mild motor strength; no movement abnormalities; mild autistic behaviors; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; undescended testicles; no recurrent respiratory infections; no recurrent skin infections; MRI brain mild right ventriculomegaly prominent sylvian fissure; 1 1 Johan den Dunnen
00457261 Fam7PatII2 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - NDD see paper; ..., no prenatal issues, birth 40w, SVD, weight 3550 g (75%), height 50 cm (28.85%), OFC 35 cm (44.44%); neonatal jaundice improved without phototherapy; never sat; never walked; no speech; poor eye contact and communication, non-verbal; arched eyebrows, thick eyebrows; hypertelorism; abnormal palpebral fissures; strabismus; ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; retrognathia; open mouth; Synophrys, single palmar crease; intellectual disability; hypotonia; weak motor strength; autistic behavior, self injurious behavior, bruxism; myoclonic seizures; no hepatomegaly; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; no recurrent respiratory infections; no recurrent skin infections; MRI brain delayed myelination, mild wide extra axial spacer; 1 1 Johan den Dunnen
00457262 Fam8PatII1 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - NDD see paper; ..., no neonatal issues, birth 40w, SVD, weight 2500 g (-2 SD); no neonatal jaundice; 18m-sit; 2y-walk; 3y-single words; normal eyebrows; hypertelorism; deep set eyes; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; no everted lower lip; pointed chin; no open mouth; Triangular face, hypopigmented paches on external genitalia, lumbosacral dimple, butterfly vertebra at T11; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; some repetative movements, ADHD; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; MRI brain normal; normal echo 1 3 Johan den Dunnen
00457263 Fam8PatII2 PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - NDD see paper; ..., 1d-skeletal deformity, birth 40w, SVD, weight 1600 g (-3.7 SD); no neonatal jaundice; >10y-sit; not yet walking; 5y-single words; marked global developmental delay; eyebrows with synophrys; hypertelorism; deep set eyes; no strabismus; no ptosis; long philtrum; no thin upper lip; no tented mouth; no everted lower lip; pointed chin; no open mouth; Triangular face, absent radii with hand deformity, hemivertebrae, camptodactyly of both hands, dorsiflexed big toes bilateraly and single kidney; intellectual disability; central hypotonia, appendicular hypertonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; ADHD; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; single kidney, grade 2 vesicoureteral reflux; no recurrent respiratory infections; no recurrent skin infections; MRI brain normal; ultrasound liver normal; 1 1 Johan den Dunnen
00457264 Fam8PatII3 PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - NDD see paper; ..., no prenatal issues, birth 37w, SVD, weight 2880 g (10%); no neonatal jaundice; 3y-sit; not yet walking; 3y-single words; normal eyebrows; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; no everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; subtle dysmorphic features; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no recurrent respiratory infections; no recurrent skin infections; 1 1 Johan den Dunnen
00457265 Fam9PatII1 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 2 affected(sister/brother), unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - NDD see paper; ..., diabetic mother, no postnatal complication of diabetes , birth 38w, C-section, weight 3000 g (14%), height 34 cm (18%), OFC 55 cm (96%); no neonatal jaundice; never sat; never walked; 21m-two words; global developmental delay; arched eyebrows; hypertelorism; normal palpebral fissures; no strabismus; no ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; open mouth; frontal bossing, high arched palate; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal reflexes; dystonia, back arching; no seizures; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no recurrent respiratory infections; no recurrent skin infections; MRI brain persistent benign enlargement of subarachnoid spaces in infancy, paucity of occipital white matter and squaring of occipital horns of lateral ventricles (sequelae of PVL); 1 2 Johan den Dunnen
00457266 Fam9PatII2 PubMed: Barish 2024, Journal: Barish 2024 brother M yes Saudi Arabia - - - - - NDD see paper; ..., global developmental delay; arched eyebrows, thick eyebrows; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; no ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; open mouth; socliosis, everted feet, frontal bossing, high arched palate; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; hyperreflexia with clonus; no movement abnormalities; self injurious behaviour, nervousness; no seizures; no hepatomegaly; liver dysfunction, elevated liver enzymes; intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; gastresophageal reflux; no steatorrhea; chronic diarrhea; gallstones; no gastrostomy tube; no undescended testicles; no recurrent respiratory infections; no recurrent skin infections; MRI brain normal; ultrasound liver normal; 1 1 Johan den Dunnen
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