All individuals with variants in gene CNOT3

22 entries on 1 page. Showing entries 1 - 22.
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00303589 Case1 PubMed: Martin 2019, Journal: Martin 2019 - F - - white - - - - NDD birth 40w6d, weight 3487 g; hip dysplasia requiring harness; height 25 centile, weight 2-9 centile, OFC 5.5 cm <0.4th centile; walk-27m; fine motor skills remain delayed; hypotonia (resolved); speech 3y-50 makaton signs, 6.5y some speech, good understanding; 1:1 full time help in mainstream school; glue ear; Large central incisors, downturned mouth, flat broad nose, 2 right ear pits; MRI brain 2y-myelination delayed, resolved by 3 years, slim corpus callosum; normal echo heart, normal renal USS; some excess hair over cheek bones, marked microcephaly 1 1 Johan den Dunnen
00303590 Case2 PubMed: Martin 2019, Journal: Martin 2019 - M - United Kingdom (Great Britain) - - - - - NDD birth 39w, weight 2211 g; fetal tachycardia, cord round neck; height 0.4-2 centile, weight 9-25 centile, OFC 75 centile; walk-35m; hypotonia; speech 2y-first words, 4y-mainly repeats words; moderate learning difficulties, 4y-attends mainstream school and special needs nursery, reduced eye contact and sensory processing disorder; conductive hearing loss; Prominent forehead, mild cranial asymmetry, hypotelorism, deep-set eyes, right helix squared off and dimple on lobe, short nose with depressed bridge, upturned nares; MRI brain 11m-mild prominence of ventricular system with normal brain parenchyma; small left kidney (VUR); elbow dimples, deep plantar creases, right lower leg capillary naevus, reduced pain sensation 1 1 Johan den Dunnen
00303591 Case3 PubMed: Martin 2019, Journal: Martin 2019 - M - Netherlands white - - - - NDD birth 39w, weight 2970 g; CS (breech); height 25 centile, weight 25-50 centile, OFC 25-50 centile; walk-36m; mild–moderate fine and gross motor delay; hypotonia; speech nasal; IQ52, hand flapping, pervasive developmental disorder not otherwise specified; hypermetropia (+5 dioptres); Prominent occiput and foreheed, low set ears, prominent nasal tip, mild prognathism, short philtrum, tapering fingers, bilateral 5th finger clinodactyly, flat feet; MRI brain 3.5y-normal 1 1 Johan den Dunnen
00303592 Case4 PubMed: Martin 2019, Journal: Martin 2019 - M - France white - - - - NDD birth 32w, weight 1900g; CS; height 0.4-2 centile, weight 0.4 centile, OFC 25-50 centile; walk-30m; fine and gross motor delay; no hypotonia; speech no language; severe learning difficulties, autism, behavioural steriotypies; nystagmus; Malar hypoplasia, prognathism, doliocephaly; MRI brain 4y-thin corpus callosum; pyelocalyceal hypotonia; scoliosis, 12y-persistent primary dentition, frequent infections, 4y-seizures 1 1 Johan den Dunnen
00303593 Case5 PubMed: Martin 2019, Journal: Martin 2019 - M - - - - - - - NDD birth 38w, weight 2100 g, remained in hospital for 1w requiring incubation, oxgyen and antibiotics; height 2-9 centile, weight 75centile, OFC 75 centile; able to walk but uses wheelchair for longer distances; no hypotonia; speech no words; severe autism; strabismus; Brachycephaly, flat midface, hypertelorism, upslanting palpebral fissures, two crowns over posterior parietal area with midline join of the hairgrowth, tapering fingers; MRI brain 3y-small hippocampus and amygdala; perimembranous VSD; paroxysmal staring events with focal abnormalities on EEG, delayed bone age, wormian bones, delayed dentition, hypermobility, persistent fontanelle 1 1 Johan den Dunnen
00303594 Case6 PubMed: Martin 2019, Journal: Martin 2019 - F - United Kingdom (Great Britain) white - - - - NDD birth 40w, weight 2400 g; brachycephaly, floppy, readmitted day 10 with seizures; height 0.4-2 centile, weight 2-9 centile, OFC 75-91 centile; walk-22m; early hypotonia; speech no words; profound learning difficulties; normal hearing, normal vision; Prominent forehead, deep set eyes, small hands and feet; MRI brain 18y-global cerebral and cerebellar atrophy, with mega cisterna magna and thickened corpus callosum; seizures started 10 weeks of age, 3y-frontal lobe epilepsy, stable thoracolumbar scoliosis 1 1 Johan den Dunnen
00303595 Case7 PubMed: Martin 2019, Journal: Martin 2019 - F - United Kingdom (Great Britain) white - - - - NDD birth 40w6d; induced because of pre-eclampsia, cyanotic episode 2h after birth; height 9-25 centile, weight 25-50 centile, OFC 50-75 centile; walk-21m; delay in gross and fine motor skills; hypotonia; speech 21m-3 single words, now talks in sentences although words can be indistinct; requires extra support at mainstream school; moderate−severe left-sided SNHL, right conductive hearing loss, intermittent right strabismus; Left plagiocephaly, low post hairline, upper back and arms hirsute, prominent lower jaw; normal renal USS; borderline biotinase level, high-pitched scream as an infant, 6w-torticollis 1 1 Johan den Dunnen
00303596 Case8 PubMed: Martin 2019, Journal: Martin 2019 - F - United Kingdom (Great Britain) white - - - - NDD birth 37w, weight 3005 g; oblique lie, elective CS; height 50 centile, weight 25centile, OFC 1.5 cm <0.4th centile; walk-26m; fine and gross motor delay; hypotonia; speech delayed; attends mainstream school with additional support; Plagiocephaly and brachycephaly, small ears with short upturned lobes, short philtrum, dimples over shoulders, bilateral talipes calcaneo-valgus; normal CT brain; normal renal USS; tongue tie, blind ending sacral dimple 1 1 Johan den Dunnen
00303597 Case9 PubMed: Martin 2019, Journal: Martin 2019 - M - - white - - - - NDD birth 38w, weight 3856 g; no peri/postnatal issues; height 2 centile, weight 0.4-2 centile, OFC 75-91 centile; 30m-cruising furniture; comparatively good fine motor skills; borderline hypotonia; speech no expressive language skills, hoarse voice; marked autism; normal hearing, normal vision; Prominent forehead, flat nasal bridge, macroglossia, short tapering fingers, small feet; MRI brain 2y-normal; 5y-trivial aortic regurgitatio, normal renal USS; delayed bone age, lower thoracic kyphosis, possible small genitalia 1 1 Johan den Dunnen
00303598 Case10 PubMed: Martin 2019, Journal: Martin 2019 - M - Netherlands - - - - - NDD birth 40w, weight 3120 g; no peri/postnatal issues; height 9-25 centile, weight 9-25 centile, OFC 25-50 centile; walk-15m; fine motor development normal, some delay of gross motor skills but now able to cycle; ?; speech delayed, nasal speech; autistic spectrum disorder, learning difficulty; strabismus; Small triangular skull, coarse hair, narrow nasal bridge, long columella, short philtrum, prominent eyebrows; MRI brain 6y-normal; 5y-normal echo heart/kidney; pes planovalgus 1 1 Johan den Dunnen
00303599 Case11 PubMed: Martin 2019, Journal: Martin 2019 - F - France white - - - - NDD birth 37w, weight 2820 g; no peri/postnatal issues; height 50-75 centile, weight 91centile, OFC 9-25 centile; walk-17m; delayed fine motor skills, can run with difficulty and slowly climb stairs; hypotonia; speech 17m-first words, difficulty in communicating with others but does form some complete sentences; anxiety, aggression, unable to read or write, special needs school; esotropia; Slightly descending columella, tubular nose, narrow palate, misaligned teeth, upslanting palpebral fissures, malar hypoplasia, 5th finger clinodactyly, short hands; MRI brain 3.5y-occipital atrophy; normal echo heart/kidney; varus foot deformity 1 1 Johan den Dunnen
00303600 Case12 PubMed: Martin 2019, Journal: Martin 2019 - M - - white - - - - NDD birth 36w, weight 2000g; no peri/postnatal issues; height 9 centile, weight 75-91 centile, OFC 25-50 centile; walk-24m; fine and gross motor delay;; speech delayed, talks in full sentences now; autism, attends special needs school; Low frontal hairline, simple helices with fleshy earlobes; soft skin, hypermobile joints, penile hypopigmentation, inguinal hyperpigmentation, 13y-temporal lobe epilepsy, melatonin for sleep 1 1 Johan den Dunnen
00303601 Case13 PubMed: Martin 2019, Journal: Martin 2019 - M - France white - - - - NDD birth 37w2d, weight 2870 g; feeding difficulties; height 9-25 centile, weight 50centile, OFC 25-50 centile; walk-35m; fine and gross motor delay; hypotonia; speech delayed; autism; normal hearing, normal vision; Small chin, malar hypoplasia, dolicocephaly; MRI brain normal; normal renal USS, abnormal right pulmonary venous return 1 1 Johan den Dunnen
00303602 Case14 PubMed: Martin 2019, Journal: Martin 2019 - M - Netherlands white - - - - NDD birth 40w, weight 3500 g; no peri/postnatal issues; adult height 173 cm, weight 72 kg, OFC 25 centile; walk-24m; fine and gross motor delay, 10y-able to cycle; ?; speech 3y-first words, developed speech, verbal dyspraxia; unable to read or write, learning level of 6 year old, works in a social employment facility; strabismus, optic nerve atrophy; Deep set eyes, slight hypotelorism; MRI brain normal; tremor left hand, prone to respiratory tract infections, high cholesterol, late puberty 1 1 Johan den Dunnen
00303603 Case15 PubMed: Martin 2019, Journal: Martin 2019 - M - - white - - - - NDD birth 40w, weight 3220 g; no peri/postnatal issues; height 0.4-2 centile, weight 0.4-2 centile, OFC 50 centile; walk-55m; fine and gross motor delay; hypotonia; speech no language; autistic spectrum disorder, learning difficulty; normal hearing, normal vision; Prominent forehead; MRI brain possible partial agenesis corpus callosum; 3y-normal echo and renal USS; positional plagiocephaly 1 1 Johan den Dunnen
00303604 Case16 PubMed: Martin 2019, Journal: Martin 2019 - F - - white - - - - NDD birth 38w, weight 2870 g; no peri/postnatal issues; height 0.4-2 centile, OFC 50-75 centile; walk-14m; ?; 5y-6y-speech, now short phrases and echolalia; severe learning difficulties, sensory issues and rocking movements; strabismus, visual processing disorder, bilateral discrete raised lesions superior to optic discs calcium deposits secondary to retinal haemorrhage; Straight, heavy eyebrows, deep set eyes, upslanting palpebral fissures, short philtrum, full lower lip, full slightly overhanging nasal tip, long fingers; scoliosis, hairy, episodes of hyperventilation 1 1 Johan den Dunnen
00382960 186267 - - ? - - - - - - - IDDSADF Motor delay, Hypoplasia of the corpus callosum, Global developmental delay, Delayed ability to stand, Delayed ability to stand, Global brain atrophy, Aplasia/Hypoplasia of the cerebral white matter, Widened subarachnoid space, Widened cerebral subarachnoid space, Prolonged neonatal jaundice, Developmental stagnation, Relative macrocephaly, Generalized hypotonia, Neonatal hypotonia, Muscular hypotonia, High palate, Small for gestational age, Impaired social interactions, Delayed social development 1 1 Andreas Laner
00390067 Pat14 PubMed: Kritioti 2021 - M - Cyprus Greece - - - - ? global developmental delay, intellectual disability, speech delay, short stature, craniocynostosis, strabismus, anal artesia,hypospadias, small chin, 5th finger clinodactyly, dysplastic kidneys, scoliosis 1 1 Johan den Dunnen
00451699 - - - F - - (not applicable) white - - - - ID - 1 1 Marketa Wayhelova
00465620 330504 - - F no Germany - - - - - IDDSADF Neurodevelopmental delay, Intellectual disability, Short attention span, Obesity, Macrocephaly, Small face, Depressed nasal bridge, Incoordination 1 1 Andreas Laner
00465629 FamPat1 PubMed: Lv 2023 2-generation family, affected twin brothers, unaffected non carrier parents M - China - - - - - ID see paper; ..., developmental delay, ankylosing spondylitis; 15y-seizures, crying followed by bilateral tonic-clonic seizures, MRI normal; EEG regional intermittent rhythmic slowing, with background slowing 1 2 Johan den Dunnen
00465630 FamPat2 PubMed: Lv 2023 twin brother M - China - - - - - ID see paper; ..., developmental delay, ankylosing spondylitis; 20y-uncontrollable laughter and hand shaking followed by bilateral tonic-clonic seizures; EEG regional intermittent rhythmic slowing, with background slowing 1 1 Johan den Dunnen
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