All individuals with variants in gene PHF6

12 entries on 1 page. Showing entries 1 - 12.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 7 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 8 1 Yu Sun
00016861 Pat21 PubMed: Tzschach 2015 2-generation family, 1 affected, heterozygous carrier mother/sister M - - - - - - - MRX;IDX moderate intellectual disability short stature (152 cm, <3rd centile), macrocephaly (59 cm), cryptorchidism, hypogenitalism, dental crowding, tapering fingers, facial dysmorphism, large ears, fleshy earlobes, synophrys, narrow palpebral fissures; sister learning problems, similar facial features 1 1 Andreas Tzschach
00050635 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, joint hypermobility, sparse scalp hair, sparse lateral eyebrow, highly arched eyebrow, strabismus, edema, spontaneous neonatal pneumothorax, umbilical hernia, hypopigmentation of the skin, 3-4 toe syndactyly, sandal gap, ventriculomegaly, generalized neonatal hypotonia, nocturnal hypoventilation, hip dysplasia, unilateral ptosis, upslanted palpebral fissure, inverted nipples 1 1 Johan den Dunnen
00087089 K2570 PubMed: Wieczorek 2013 - F - - - - - - - ? see paper; ..., birth 38w; intellectual disability; 18m-walk; 13m-first words; no hypotonia; no seizures; ?; no hearing loss; no frequent infections; feeding problems; anxiety; coarse face; low frontal hairline; synophrys; thick eyebrows; no long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; no thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; prominent interphalangeal joints; no prominent distal phalanges; sandal gap; normal bone age; scoliosis; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; streaky hyperpigmentation 1 1 Johan den Dunnen
00087090 K2436 PubMed: Wieczorek 2013 - F - - - - - - - ? see paper; ..., birth 39w; intellectual disability; >12m-sit, 30m-walk; >36m-first words; hypotonia; no seizures; no vision problem; no hearing loss; frequent infections, cystitis; no feeding problems; behavioural anomalies; coarse face; no low frontal hairline; synophrys; thick arched eyebrows; no long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; no broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; short metacarpals/metatarsals; prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; advanced bone age; no scoliosis; clitoris hypoplasia; congenital heart disease, PDA; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; bilateralnail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; streaky hyperpigmentation 1 1 Johan den Dunnen
00183115 25644381-FamD83 PubMed: Hu 2016 family, 5 affected, 4 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 5 Johan den Dunnen
00294939 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00315016 GDB1321 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00374805 S-1590 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00405783 194266 - - M no Germany - - - - - BFLS Global developmental delay, Motor delay, Hypotonia, Infantile muscular hypotonia, Strabismus, Hypoglycemia, Neonatal hypoglycemia, Esodeviation, Patent foramen ovale, Constipation, Atrial septal defect, Plagiocephaly, Abnormality of calvarial morphology, Abnormal corpus callosum morphology, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Sleep disturbance, Sleep apnea, Abnormal testis morphology, Retractile testis, Lacrimal duct stenosis, Nasolacrimal duct obstruction 1 1 Andreas Laner
00448149 Pat6A PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 3 affected sibs M - Netherlands Europe-W - - - - NDD see paper; ..., birth 39w Ceasarean section( elective, pre-eclampsia) LGA; conductive hearing loss (childhood); mild unilateral SNHL (adulthood); chronic serous otitis media (multiple pe tubes); high myopia; b/l retinal detachment; b/l complete absence sphincter pupillate; developmental motor delay; 2y-walk; fine motor difficulties  ; developmental delay language; 2y-first words ; 3y-speak in sentences; no autism; ADHD; anger/ frustration, obsessive traits in childhood,  challenging behavior (when older); sleep frequent waking, night terrors ; FSIQ 60 ; special education, secondary school ; Enlarged kidneys but then normal. Thickened bladder wall ; No; Hypogonadotropic hypogonadism; secondary osteopenia; no tumors; no parathyroid adenoma ; no sarcoma ; no uterine myoma ; hypotonia; seizures (generalized, complex partial seizures); EEG abnormal; dysmorphic features, coarse facial features; Prominant ears; left ear pits (posterior); dimples ear lobes; uplifted ear lobes; downslanting palpebral fissures; periorbital fullness; broad nasal tip; overhanging columella; bitemporal narrowing; long, grooved chin; smooth long philtrum, thin upper lip, high arched palate, thickened gums , crossbite; broad eyebrows (thickend medially and sparse laterally), fair and fine hair, hair whorl; hypospadias, unilateral cryptorchodism; right inguinal hernia, umbilical hernia; joint limitations elbows, knees, small joints hands, short 4th MT, overriding toes 4-5, spindle shaped fingers, small toe nails, thoracic scoliosis, platyspondyly and irregular end plates, Hyperlaxity DIP joints, deep-set hyperconvex toe nails, hallus valgus, large fleshy hands; supernumerary teeth, macroglossia (tongue reduction) ; soft skin, keratosis pilaris, hypotrichosis (HH), few melanocytic naevi, nevus flameus (forehead); excessive drooling (surgery for salivary gland >dry mouth), tonsillectomy and adenoidectomy; DEXA scan osteoporosis (Z -2.8) 1 3 Johan den Dunnen
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