All individuals with variants in gene PRR12

40 entries on 1 page. Showing entries 1 - 40.
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00315936 Pat1 PubMed: Leduc 2018 - F - United States white - - - - ID sit-12m, walk-24m; 1st word 24m, combined words 36m; intellectual disability; no seizures; truncal hypotonia; gait narrow base of support, short choppy steps; autism, anxiety; excessive sleep (18h/day), low energy; iris brushfield spots, stellate pattern, brilliant blue; left iris coloboma; long eyelashes, synophyrs, nasolacrimal duct obstruction; myopia, exotropia; microcephaly, low set small ears, ear lobe creases, down pointing mouth, slight retrognathia ; pectus excavatum, 2–3 toe syndactyly; 2 maternal half-sisters attention deficit and hyperactivity 1 1 Johan den Dunnen
00315937 Pat2 PubMed: Leduc 2018 - M - United States - - - - - ID walk-18; speech delay, 3y-speech therapy; intellectual disability; no seizures; history of hypotonia which has improved; immature motor skills, significant motor planning difficulties ; autism, attention deficit and hyperactivity; difficulty falling asleep; stellate iris pattern; no coloboma; mild ptosis, distichiasis, lagophthalmos, mildly downslanting palpebral fissures; mild accommodative exotropia ; flattened midface, downslanting palpebral fissures, hooded upper eyelids, low-set ears and mild overbite; mild scapular winging; unilateral hearing loss; no family history 1 1 Johan den Dunnen
00315938 Pat3 PubMed: Leduc 2018 - M - United States - - - - - ID sit-5–6m, walk-13m; speech delay, poor articulation; intellectual disability; no seizures; 3+ brisk patellars; abnormal gait, reported likely due to tibial torsion; attention deficit and hyperactivity, anxiety; snoring, obstructive sleep apnea; blue irides with stellate pattern; bilateral iris and lentincular coloboma; deep set eyes, ptosis, synophyrs, arched heavy eyebrows, large looking palpebral fissures; myopia with astigmatism, unilateral strabismic amblyopia, resolved exotropia; microcephaly, soft cartilage, cupped ears, submucous cleft palate, torus palatinus, small uvula, wide spaced/irregular/small teeth, supraorbital ridges; sacral dimple, genu recurvatum, tibial torsion, pes planus, fifth finger clinodactyly, hyperextension in small joints of hands: umbilical hernia, ankyloglossia, patent foramen ovale, tapered fingers, small nails, prominent finger pads, deep hand creases; Chiari I malformation in mother and maternal aunt 1 1 Johan den Dunnen
00315939 patient PubMed: Cordova-Fletes 2015 - F - Mexico - - - - - ID see paper; ..., intellectual disability; 1w-seizures since 1st week of age; no hypotonia, no hypertonia; normal gait; anxiety, poor visual contact, short attention span, lack of social sharing; no iris abnormality, no coloboma; synophrys, myopia, strabismus; long philtrum; bilateral pes varus; hypertrichosis, abundant gray hair, persistence of fingerpads; no family history 1 1 Johan den Dunnen
00315940 DECIPHER PubMed: Leduc 2018 - - - United Kingdom (Great Britain) - - - - - ? abnormalities head or neck, abnormalities nervous system 1 1 Johan den Dunnen
00315941 DECIPHER PubMed: Leduc 2018 - - - United Kingdom (Great Britain) - - - - - ? abnormalities head and neck, abnormalities cardiovascular system, abnormalities integument, abnormalities musculature, abnormalities nervous system 1 1 Johan den Dunnen
00315942 DECIPHER251777 PubMed: Leduc 2018 - - - United Kingdom (Great Britain) Hispanic - - - - ? autism, intellectual disability, congenital diaphragmatic hernia, obesity, synophrys, deeply set eyes, clinodactyly 5th finger 1 1 Johan den Dunnen
00315943 Pat1 PubMed: Cordova-Fletes 2020 - M - Mexico - - - - - ? see paper; ... 1 1 Johan den Dunnen
00315971 Pat1 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - United States Europe-N - - - - ? see paper; ..., failure to thrive; bilateral anophthalmia; bilateral ankyloblepharon; motor delay; speech delay; self-stimulating behaviors; no hypotonia; no cardiac defect; no kidney anomaly; Microcephaly 1 1 Johan den Dunnen
00315972 Pat2 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - - white - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; visual impairment; Intermittent exotropia; no motor delay; speech delay; aggression, biting, phonosensitivity, pacing; hypotonia; no cardiac defect; no kidney anomaly; left eye diaphragmatic hernia; thin upper lip 1 1 Johan den Dunnen
00315973 Pat3 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - Germany - - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; no visual impairment; motor delay; no speech delay; mild intellectual disability; autism spectrum disorder, attention deficit-hyperactivity disorder, anxiety, aggression; hypotonia; no cardiac defect; no kidney anomaly; Kyphosis; low-set ears; 5th finger clinodactyly; periorbital puffiness 1 1 Johan den Dunnen
00315974 Pat4 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - Japan - - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; visual impairment; left eye ptosis; motor delay; speech delay; mild intellectual disability; no behavioral features; hypotonia; cardiac defect; no kidney anomaly; Scoliosis; cleft soft palate; Meckel’s diverticulum; microcephaly; low-set ears; upturned nose; thin lips 1 1 Johan den Dunnen
00315975 Pat5 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - Japan - - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; visual impairment; motor delay; speech delay; mild intellectual disability; no behavioral features; hypotonia; no cardiac defect; no kidney anomaly; bilateral sensorineural hearing loss; microcephaly; cleft soft palate; low-set ears; upturned nose; thin lips 1 1 Johan den Dunnen
00315976 Pat6 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - Nepal - - - - - ? see paper; ..., no failure to thrive; no globe defect; no coloboma; visual impairment; Intermittent exotropia; motor delay; speech delay; mild intellectual disability; self-injurious and repetitive behaviors; no hypotonia; no cardiac defect; kidney anomaly; bilateral hearing loss; unilateral cryptorchidism; left eye plagiocephaly 1 1 Johan den Dunnen
00315977 Pat7 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - United States white - - - - ? see paper; ..., no failure to thrive; no globe defect; no coloboma; visual impairment; Esotropia; nystagmus; motor delay; speech delay; no behavioral features; no hypotonia; cardiac defect; kidney anomaly; Low-set ears; bilateral epicanthal folds; obstructive sleep apnea 1 1 Johan den Dunnen
00315978 Pat8 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - United States Europe - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; no visual impairment; motor delay; speech delay; mild/moderate intellectual disability; stereotypies, agitation, anxiety; no hypotonia; no cardiac defect; no kidney anomaly; Microcephaly; bilateral cryptorchidism, epicanthal folds; left eye 1-2 toe syndactyly; upturned nose; thin upper lip 1 1 Johan den Dunnen
00315979 Pat9 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - France;Germany;Netherlands - - - - - ? see paper; ..., no failure to thrive; no globe defect; bilateral: macula; visual impairment; bilateral retinal dysplasia, nasolacrimal duct stenosis; strabismus; motor delay; speech delay; moderate/severe intellectual disability; repetitive behaviors, anxiety; no hypotonia; no cardiac defect; no kidney anomaly; Low-set ears; bilateral inguinal hernia, cryptorchidism 1 1 Johan den Dunnen
00315980 Pat10 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - Japan - - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; no visual impairment; motor delay; speech delay; no behavioral features; hypotonia; cardiac defect; kidney anomaly; Umbilical hernia; malrotation of small intestine; bilateral cryptorchidism; upturned nose 1 1 Johan den Dunnen
00315981 Pat11 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - - Arab - - - - ? see paper; ..., failure to thrive; bilateral microphthalmia; left eye iris coloboma, chorioretinal; bilateral pigmentary changes in retina (severe), optic nerve hypoplasia;rigft eye persistent pupillary membrane (Wachendorf membrane); motor delay; speech delay; attention deficit, hyperactivity, repetitive movements, no interest in social interaction; hypotonia; cardiac defect; no kidney anomaly; Microcephaly; thin upper lip; bilateral 2-3 toe syndactyly 1 1 Johan den Dunnen
00315982 Pat12 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - United States white;Europe - - - - ? see paper; ..., no failure to thrive; no globe defect; no coloboma; visual impairment; Stellate irides; motor delay; speech delay; attention deficit-hyperactivity disorder, sensory processing disorder, self-injurious and repetitive behaviors; hypotonia; cardiac defect; kidney anomaly; Kyphosis; microcephaly; upturned nose 1 1 Johan den Dunnen
00315983 Pat13 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - - white - - - - ? see paper; ..., failure to thrive; left eye microphthalmia; left eye iris coloboma, optic nerve; right eye iris coloboma; visual impairment; right eye complex Rieger anomaly; no motor delay; speech delay; profound intellectual disability; no behavioral features; cardiac defect; no kidney anomaly; Short trunk; thyroid hypoplasia; 5th finger clinodactyly; upturned nose; thin lips 1 1 Johan den Dunnen
00315984 Pat14 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - - white - - - - ? see paper; ..., no failure to thrive; no globe defect; no coloboma; visual impairment; bilateral oblong optic nerves, ptosis; motor delay; no speech delay; no behavioral features; no hypotonia; cardiac defect; no kidney anomaly; Downslanting palpebral fissures 1 1 Johan den Dunnen
00315985 Pat15 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - Philippines - - - - - ? see paper; ..., no failure to thrive; no globe defect; no coloboma; no visual impairment; Retinopathy of prematurity; motor delay; speech delay; autistic features; hypotonia; no cardiac defect; kidney anomaly; Microcephaly; bilateral epicanthal folds 1 1 Johan den Dunnen
00315986 Pat16 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - - white - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; no visual impairment; motor delay; speech delay; no behavioral features; hypotonia; cardiac defect; no kidney anomaly; bilateral choanal stenosis, epicanthal folds, 5th finger clinodactyly; unilateral cryptorchidism, CHARGE ear; hearing loss; thin upper lip 1 1 Johan den Dunnen
00315987 Pat17 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - - white - - - - ? see paper; ..., no failure to thrive; left eye anophthalmia; right eye iris coloboma; visual impairment; left eye optic nerve hypoplasia, ankyloblepharon; no motor delay; speech delay; no behavioral features; no hypotonia; cardiac defect; kidney anomaly 1 1 Johan den Dunnen
00315988 Pat18 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - F - Netherlands - - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; visual impairment; Strabismus; motor delay; speech delay; mild intellectual disability; no behavioral features; hypotonia; no cardiac defect; kidney anomaly; bilateral hearing loss, epicanthal folds; unilateral 2-3 toe syndactyly; upturned nose 1 1 Johan den Dunnen
00315989 Pat20 Chowdhury ASHG2020, PubMed: Chowdhury 2021 - M - Italy - - - - - ? see paper; ..., no failure to thrive; no globe defect; no coloboma; visual impairment; left eye congenital hypertrophy of retinal pigment epithelium (stable); motor delay; no speech delay; moderate intellectual disability; no behavioral features; hypotonia; cardiac defect; no kidney anomaly; Brachycephaly; downslanting palpebral fissures 1 1 Johan den Dunnen
00315990 DECIPHER260525 DECIPHER database - - - - - - - - - ? broad-based gait, cerebral calcification, developmental regression, global developmental delay, microcephaly, seizure 1 1 Johan den Dunnen
00315991 DECIPHER277812 DECIPHER database - - - - - - - - - ? coarctation of aorta, downslanted palpebral fissures, gastrostomy tube feeding in infancy, long fingers, long philtrum, micrognathia, moderate global developmental delay, patent ductus arteriosus after birth at term, tricuspid atresia, obsolete transposition of the great arteries with ventricular septal defect 1 1 Johan den Dunnen
00315992 DECIPHER280416 DECIPHER database - - - - - - - - - ? aplasia/hypoplasia of the optic nerve, congenital hip dislocation, conical mandibular incisor, iris coloboma, moderate global developmental delay, postnatal microcephaly, preauricular pit, sacral dimple, unilateral microphthalmos 1 1 Johan den Dunnen
00315993 DECIPHER417908 DECIPHER database - - - - - - - - - ? absent speech, global developmental delay, recurrent hand flapping 1 1 Johan den Dunnen
00426469 209706 - - F no Germany - - - - - NOC neurodevelopmental delay, delayed speech and language development 1 1 Andreas Laner
00426470 Fam1Pat1A PubMed: Reis 2021, 3-generation family, affected mother/daughter F - United States - - - - - MCOP left eye microphthalmia; fragile hair 1 2 Johan den Dunnen
00426471 FamPatB PubMed: Reis 2021 daughter F - United States - - - - - MCOP left eye Peters Anomaly, microphthalmia; right eye hyperopia; bilateral nystagmus; mild developmental delay/learning difficulties 1 1 Johan den Dunnen
00426472 Pat2 PubMed: Reis 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - MCOP bilateral iris coloboma, nystagmus and foveal hypoplasia; left eye Peters anomaly, microcornea; right eye persistent fetal vasculature cataract, abnormal blood vessels in iris and cornea 1 1 Johan den Dunnen
00426473 Pat3 PubMed: Reis 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - MCOP bilateral Peter's anomaly, left eye microphthalmia, right eye glaucoma; severe intellectual disability, moderate periventricular leukomalacia; short stature, dysmorphic facial features, 4q35.1del 1 1 Johan den Dunnen
00426474 Pat4 PubMed: Reis 2021 2-generation family, 1 affected, unaffected parents F - United States - - - - - MCOP unilaterla microphthalmia; global delays; short stature 1 1 Johan den Dunnen
00426477 Pat19 PubMed: Chowdhury 2021 - F - - white - - - - ? see paper; ..., failure to thrive; no globe defect; no coloboma; visual impairment; lagophthalmos; no motor delay; speech delay; intellectual disability; no behavioral features; no hypotonia; cardiac defect; no kidney anomaly; Malrotation of intestine; downslanting palpebral fissures; cleft palate 1 1 Johan den Dunnen
00427165 210060 - - M no Germany - - - - - NOC Neurodevelopmental delay, Hypotonia, Hearing impairment 1 1 Andreas Laner
00435600 Pat6 PubMed: Niggl 2023 2-generation family, 1 affected M - - - - - - - NDD see paper; ..., normal pregnancy, birth birth at term; 3y6m-first words; <2y6m-walk; 4y-can speak in sentences (received significant speech therapy); moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; no seizures; hypotonia; no movement disorder; happy demeanor, poor concentration; rare apnea, sleep study, no intervention recommended; round face, cleft palate, small hands and feet, deep-set eyes, thin upper lip, smooth philtrum, slightly downslanting palpebral fissures; normal eyes/vision; middle ear disease, recurrent ear infections; no feeding problems, required G-tube; ear infections; joint laxity 1 1 Johan den Dunnen
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