All individuals with variants in gene NAA15

50 entries on 1 page. Showing entries 1 - 50.
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00050566 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, high forehead, dental crowding, hypopigmented skin patches 1 1 Johan den Dunnen
00311416 AGRE_03C14733 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? see paper; ..., (growth parameters); normal motor abilities; autism spectrum disorder (HP:0000729); delayed speech (HP:0000750) 1 1 Johan den Dunnen
00311417 AGRE_AU031003 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? see paper; ..., (growth parameters); low average range motor abilities (Vineland motor skills standard score of 84), fine motor difficulties noted; intellectual disability (HP:0001249), adaptive functioning in very low range (composite score on the Vineland = 21); autism spectrum disorder (HP:0000729), 2y-behavior problems (irritability, pica); delayed speech (HP:0000750), 2y-first words, 4y-phrases uses some single words/phrases; no seizures; skin abnormalities (type unspecified), history of frequent ear infections, 2y-sleep problems (difficulty falling asleep, interrupted sleep), sensory differences include tactile sensory seeking (e.g., pressure), auditory sensitivities 1 1 Johan den Dunnen
00311418 Antwerp_105005 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium - - - - - ? see paper; ..., (growth parameters); no feeding difficulties; global developmental delay (HP:0001263); global developmental delay (HP:0001263); aggressive behavior (HP:0000718), traits of Noonan syndrome, possible autism spectrum disorder; global developmental delay (HP:0001263); no seizures; MRI brain normal; normal muscle tone; unilateral cryptorchidia (HP:0012741), ptosis (HP:0000508) left eye, mild hypertelorism (HP:0000316), flat philtrum (HP:0000319), low set ears (HP:0000369); no cardiavacular anomalies; mild pectus carinatum upper side (HP:0000917), excavatum below (HP:0000915); 1 1 Johan den Dunnen
00311419 Antwerp_106663 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium - - - - - ? see paper; ..., (growth parameters); intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); no seizures; 3 pre-auricular tags (HP:0000384) on right side; no skeletal anomalies; normal connective tissue; behavioral problems 1 1 Johan den Dunnen
00327622 - - - F - - - - - - - ? Rod-cone dystrophy (HP:0000510); Hypothyroidism (HP:0000821); Global developmental delay (HP:0001263); Congenital stationary night blindness (HP:0007642); Schizophrenia (HP:0100753) 1 1 IMGAG
00359593 - - - M - - - - - - - ? Hypotelorism (HP:0000601); Global developmental delay (HP:0001263); Postnatal microcephaly (HP:0005484) 1 1 IMGAG
00436189 268511 - - M no Germany - - - - - MRD50 Intellectual disability, Behavioral problems, Motor delay 1 1 Andreas Laner
00438307 Pat25 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0001249 intellectual disability; HP:0001252 muscular hypotonia 1 1 Johan den Dunnen
00451709 297403 - - M ? ? (unknown) - - - - - MRD50 Global developmental delay, Autistic behavior 1 1 Andreas Laner
00458571 - - - F - - (not applicable) white - - - - NDD HP:0001249, HP:0000750, HP:0000331, HP:0001260, HP:0030051 1 1 Marketa Wayhelova
00461037 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00464070 - - - M - - (not applicable) white - - - - ID HP:0000717, HP:0000177, HP:0000736, HP:0000750? HP:0001256, HP:0001263, HP:0002342, HP:0002360, HP:0002487, HP:0010862, HP:0012758, HP:0100851 1 1 Marketa Wayhelova
00464372 Leiden_D1.11.09640 PubMed: Cheng 2018 proband F - Netherlands - - - - - ID see paper; ..., (growth parameters); global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); MRI brain normal; mild dysmorphic features (HP:0001999), small earcups; cutis marmorata (HP:0000965) 1 1 Johan den Dunnen
00464373 Pat2 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - ID see paper; ..., (growth parameters); mild ataxia (HP:0001251); moderate intellectual disability (HP:0002342) (TIQ 51); autism spectrum disorder (HP:0000729); difficulty speech (HP:0002465); no seizures; MRI brain moderate cerebellar atrophy (HP:0001272), thin corpus callosum (HP:0002079),mild atrophy of the left hippocampus (HP:0007367); hypertonia (HP:0001276); hypertelorism (HP:0000316), low-set ears (HP:0000369), overfolded helices (HP:0000396), brachycephaly (HP:0000248), broad nose tip (HP:0000455), prominent upper lip (HP:0000215), fetal pads on fingertips (HP:0001212); atrial ectopic (multifocal) tachycardia (HP:0011701) treated with verapamil, hypertension (HP:0000822); easy fatiguability (HP:0003388) 1 1 Johan den Dunnen
00464374 Pat3 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ID see paper; ..., (growth parameters); abnormality of movement (HP:0100022), delayed; moderate intellectual disability (HP:0002342); poor attention; delayed verbal; no seizures; MRI brain normal; hypotonia (HP:0001290); ventricular septal defect repaired by surgery in infancy; clinodactyly feet (HP:0001863); profound perspiration from birth 1 1 Johan den Dunnen
00464375 Gezc_12_4087 PubMed: Cheng 2018 proband M - Australia - - - - - ID see paper; ..., (growth parameters); motor delay (HP:0001270); autism spectrum disorder (HP:0000729); sign language; wide low nasal root, telecanthus, long philtrum, small mouth, long ears, inverted nipples, 4 café au lait spots.; 1 1 Johan den Dunnen
00464376 ? PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States African-American - - - - ID see paper; ..., (growth parameters); global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); absent speech (HP:0001344); no seizures; MRI brain normal; mild dysmorphia (HP:0001999); 1 1 Johan den Dunnen
00464377 ? PubMed: Zaidi 2013 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ID see paper; ..., (growth parameters); mild delay in motor skills; mild delay in cognition; autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); no seizures; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; congenital diaphragmatic hernia (HP:0000776) (bochdalek, left sided), lung hypoplasia (HP:0002089), extracorporeal membrane oxygenation (ECMO); positional plagiocephaly, mild torticollis resolved with helmet 1 1 Johan den Dunnen
00464378 04147-8645 PubMed: Longoni 2017 proband F - United States - - - - - ID see paper; ..., (growth parameters); motor delay (HP:0001270); moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); no seizures; 1 2 Johan den Dunnen
00464379 Gecz_13098 PubMed: Stessman 2017 proband F - Australia - - - - - ID see paper; ..., (growth parameters); 3y-difficulties with solid food, now resolved; global developmental delay (HP:0001263); global developmental delay (HP:0001263); autism spectrum disorders (HP:0000729), highly anxious, uncomfortable with touch; absent speech (HP:0001344), babbling only; no seizures; MRI brain normal; low mucle tone; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; externally rotated left leg. toe-walks, hyperextends knees, decreasing exercise tolerance 1 1 Johan den Dunnen
00464380 Pat10-1 PubMed: Stessman 2017 family, affected mother/boy and younger brother M - Australia - - - - - ID see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270),9m- rolled, 1y-sit, 1y-crawl, 2y-walk; mild intellectual disability (HP:0001256); autism spectrum disorders (HP:0000729), ADHD, depression, anxiety; delayed speech (HP:0000750), able to speak in sentences; childhood onset 'atypical absence' seizures, now weaned off medication and seizure-free; infantile period low mucle tone, ormal tone in adolescence; mild: long narrow head, mild retrognathia, malar hypoplasia, high narrow palate, broad single uvula; no cardiavacular anomalies; flexible joints but not clinically hypermobile (Beighton score 2/9). Increased carrying angle elbow; pes planus with hindfoot deformity; 1 1 Johan den Dunnen
00464381 Pat10-2 PubMed: Cheng 2018 younger brother M - Australia - - - - - ID see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270), 18m-walk, 2y still clumsy; moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); one febrile convulsion; normal muscle tone; pointed chin, fleshy upturned ear lobes; no cardiavacular anomalies; attention deficit 1 1 Johan den Dunnen
00464382 Pat10-3 PubMed: Cheng 2018 mother F - Australia - - - - - ID see paper; ..., (growth parameters); social anxiety, specific learning difficulties (HP:0001328); very shy in childhood, restricted interests, history of depression; delayed speech (HP:0000750); no seizures; normal muscle tone; mild retrognathia,malar hypoplasia; no cardiavacular anomalies; 1 1 Johan den Dunnen
00464383 Gecz_20_4801 PubMed: Cheng 2018 proband M - Australia - - - - - ID see paper; ..., (growth parameters); mild-borderline intellectual disability; ADHD; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; marked hypersomnolence in early years, upper airway obstruction, central and obstructive sleep apnoea 1 1 Johan den Dunnen
00464384 Pat11A PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., (growth parameters); mild-moderate intellectual disability, 9y9m-TIQ was 54 (VIQ 67 and PIQ<55); anxiety; delayed speech (HP:0000750); normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; 1 1 Johan den Dunnen
00464385 Pat12 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., (growth parameters); food sensory issues; impulsive inpatient, short attention span, cannot focus, some self-injuries; autism spectrum disorder (HP:0000729), short attention span (HP:0000736), self-injurious behavior (HP:0100716); delayed speech (HP:0000750), 5y-first, around 100 words; three seizure episodes (possibly petit mal); MRI brin stable left periventricular subependymal nodule, left parietal subcortical/cortical lesion, likely subcortical hamartomatous lesion as seen in tuberous sclerosis; no facial dysmorphism; incontinentia pigmenti, broad-based gait (HP:0002136); tuberous sclerosis complex (no TSC1/TSC2 variants), constipation (HP:0002019), 1 1 Johan den Dunnen
00464386 Pat13 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Canada - - - - - ID see paper; ..., (growth parameters); failure to thrive (HP:0001508); motor delay (HP:0001270), 18m-crawl, 2y-walked, 4y-jump, fine motor difficulties noted; profound global developmental delay (HP:0001263); autism spectrum disorder (HP:0000729); speech delay (HP:0000750), 4y-no words; no seizures; MRI brain normal; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; eczema, mild zinc deficiency and multiple allergies (dairy, eggs, peas, bananas and lentils) 1 1 Johan den Dunnen
00464387 Pat14 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., (growth parameters); no feeding difficulties; normal motor abilities, 12m-walk, <4y-cycled; moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); no seizures; normal muscle tone; no facial dysmorphism; 1 1 Johan den Dunnen
00464388 Antwerp_115149 PubMed: Cheng 2018 proband M - Belgium - - - - - ID see paper; ..., (growth parameters); no feeding difficulties; gross and fine motor difficulties, 6.5m-craw, 13m-walk; intellectual disability (HP:0001249), SON-IQ 72, SON-RS 79, SON-PS 72: harmonic IQ profile; autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); episode of trichotillomania 1 1 Johan den Dunnen
00464389 Gezc2_34735 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Australia - - - - - ID see paper; ..., (growth parameters); no feeding difficulties; normal gross motor abilities, poor fine motor motor abilities; Intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); basic speech, 1.5y-11 words, then lost speech, gradually returned; no seizures; normal muscle tone; prominent forehead, mild retrognathia; aortic root at upper limit of normal (35 mm), otherwise normal LV and valves; marfanoid habitus, striae 1 1 Johan den Dunnen
00464390 Pat18 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., (growth parameters); no feeding difficulties; motor delay (HP:0001270), 9m-crawl, 16m-walk, fine motor difficulties noted; moderate intellectual disability (HP:0002342), WISC-IV, NEPSY-II, Trog-2, VMI, Vineland-II below 2SD; happy personality, social, kind, helpful, but ten-dency to over-positive behaviour, seeks contact with adults, very easy to lead; delayed speech (HP:0000750), 5y-3-4 words in sentences at 5y, 14y-complete sentences; no seizures; mild facial dysmorphism (HP:0001999), resemble facial features NAA10 cases reported by Popp 2015; no cardiavacular anomalies, no heart defect or signs of cardiomyopathy; no skeletal anomalies; normal connective tissue; 1 1 Johan den Dunnen
00464391 1-00455 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ID see paper; ..., (growth parameters); no feeding difficulties; 2y-delayed walking; learning issues; normal behaviour; speech issues; no seizures; hypotonia (HP:0001290); no facial dysmorphism; complex heterotaxy congenital heart disease with DORV, hypoplastic RV, left SVC/IVC, tricuspid atresia, severe PS, TAPVR; no skeletal anomalies; normal connective tissue; midline liver 1 1 Johan den Dunnen
00464392 Pat20 PubMed: Zaidi 2013 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - ID see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270), 18m-walk; no seizures; no facial dysmorphism; no cardiavacular anomalies; eczema; obesity (HP:0001513) 1 1 Johan den Dunnen
00464393 Pat21 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ID see paper; ..., (growth parameters); failure to thrive (HP:0001508); motor delay (HP:0001270), 10m-rol, 12m-site, 17m-walk; intellectual disability (HP:0001249), 8y3m-able to read, knows some sight words, writes name; normal behaviour; delayed speech (HP:0000750), 2.5y-first word, 4y-sentences; 13m-seizures (HP:0001250) possibly related to medications receiving; MRI brain normal; hypotonia (HP:0001290); esotropia (HP:0000565), wear glasses; esay bruising (HP:0000978); prematurity (birth 34w with twin sister), eye anomalies, atypical migranes, mild hypoglacemia, constipation, emesis, abdominal distention, intestinal dysmotility 1 1 Johan den Dunnen
00464394 Pat22-1 PubMed: Cheng 2018 family, affected father/son M - - - - - - - ID see paper; ..., (growth parameters); motor delay (HP:0001270), 8m-sit, 18m-walk; moderate intellectual disability (HP:0002342); hetero-aggressivness (HP:0000718), hyperactivity (HP:0000752), mild autistic features (HP:0000729); speech delay (HP:0000750), 5-10 words; no seizures; hypotonia (HP:0001290); mild facial dysmorphism (HP:0001999), small mouth (HP:0000160), low set ears (HP:0000369); no skeletal anomalies; normal connective tissue; father is mildly affected father (2y-walk, speech delay, low IQ) 1 1 Johan den Dunnen
00464395 Pat22-2 PubMed: Cheng 2018 father M - - - - - - - ID see paper; ..., (growth parameters); no feeding difficulties; motor delay (HP:0001270), 2y-walk; normal cognitive abilities, likely low IQ; mild autistic features (HP:0000729); delayed speech (HP:0000750), 4y-sentences; no seizures; normal muscle tone; mild facial dysmorphism (HP:0001999), small mouth (HP:0000160), low set ears (HP:0000369); no skeletal anomalies; normal connective tissue; hypermetropia and strabismus 1 1 Johan den Dunnen
00464396 Gezc_15_341 PubMed: Cheng 2018 proband M - Australia - - - - - ID see paper; ..., (growth parameters); fine motor coordination problems; intellectual disability; mild speech delay (HP:0000750); seizures; no facial dysmorphism; inguinal hernia 1 1 Johan den Dunnen
00464397 Pat25 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ID see paper; ..., (growth parameters); motor delay (HP:0001270); global developmental delay (HP:0001263); autism spectrum disorder (HP:0000729); speech delay (HP:0000750), 4y-20 words; 4y-seizures (HP:0001250); MRI brain normal; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; constipation, lennox-gastaut syndrome with multiple tonic seizure 1 1 Johan den Dunnen
00464398 Pat26 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., (growth parameters); global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); hypertelorism (HP:0000316), flat broad nosebridge (HP:0000431); 1 1 Johan den Dunnen
00464399 Pat27 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - ID see paper; ..., (growth parameters); motor delay (HP:0001270), 2y-walk; moderate-severe intellectual disability; parental concerns on autism spectrum disorder; speech delay (HP:0000750, 8y-short sentances; no seizures; normal muscle tone; straight eyebrows, square jaw but looks similar to mother/sister; no cardiavacular anomalies; patellar dislocation (HP:0002999), sarcoral dimple (HP:0000960), talipes (HP:0001883); premature adenarche, anteriorly placed anus (HP:0001545) 1 1 Johan den Dunnen
00464400 Pat28-1 PubMed: Cheng 2018 family, affected mother/2 daughters F - Netherlands - - - - - ID see paper; ..., (growth parameters); motor delay; moderate intellectual disability (HP:0002342) (IQ50); autism spectrum disorder (HP:0000729); speech delay; no seizures; normal muscle tone; no facial dysmorphism; hypermobility, partial syndactyly in one hand; 1 1 Johan den Dunnen
00464401 Leiden_D2.11.05195 PubMed: Cheng 2018 sister F - Netherlands - - - - - ID see paper; ..., (growth parameters); motor delay (HP:0001270); moderate intellectual disability (HP:0002342) (IQ50); autism spectrum disorder (HP:0000729); no facial dysmorphism; 1 1 Johan den Dunnen
00464402 Pat28-3 PubMed: Stessman 2017 mother F - Netherlands - - - - - ID see paper; ..., (growth parameters); mild intellectual disability (HP:0001256), IQ70; normal behaviour; no speech delay; no seizures; normal muscle tone; no facial dysmorphism; 1 1 Johan den Dunnen
00464403 Pat30 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - ID see paper; ..., (growth parameters); multiple food allergies with eczema; motor delay (HP:0001270), 3y-walk; Moderate intellectual disability (HP:0002342) (IQ50); 7y-stereotypy (HP:0000733) stopped; speech delay (HP:0000750), 7y-2-3 word sentences; no seizures; MRI brain normal; neonatal hypotonia; straight eyebrows, depressed nasal bridge; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; 1 1 Johan den Dunnen
00464404 Pat31 PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ID see paper; ..., (growth parameters); motor delay (HP:0001270); Moderate intellectual disability (HP:0002342) (IQ50); implusive (HP:0100710) and obsessive; speech delay (HP:0000750); no seizures; normal muscle tone; epicanthus inversus (HP:0000537), smooth philtrum (HP:0000319); no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; prematurity 1 1 Johan den Dunnen
00464405 Troina_3211 PubMed: Cheng 2018 proband M - Italy - - - - - ID see paper; ..., (growth parameters); motor delay (HP:0001270), 10m-sit, 2y-walk; intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); delayed (HP:0000750), 30m-first words; MRI brain normal; 1 1 Johan den Dunnen
00464406 DECIPHER:332240 PubMed: Stessman 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - ID see paper; ..., 35y-deceased; mild intellectual disability; 3y-developmental delay, 18m-walk; delayed speech, 2y-single word; MRI brain normal; special school for children with moderate learning difficulties; adult able to live alone with support; 25y-testicular carcinoma; 31y-type II diabetes; hypersensitive 1 1 Johan den Dunnen
00464407 ? PubMed: Cheng 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - ID see paper; ..., mild intellectual disability, mild dysmorphic features, motor delay childhood, low birth weight (-2SD); low adult height/weightOFC (10th centile); poor vision, cortical visual impairment 1 1 Johan den Dunnen
00464579 323116 - - F no ? (unknown) - - - - - MRD50 Delayed speech and language development, Neurodevelopmental delay, Febrile seizure (within the age range of 3 months to 6 years), Developmental regression 1 1 Andreas Laner
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