All individuals with variants in gene CDC42BPB

20 entries on 1 page. Showing entries 1 - 20.
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00334663 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 5 LOVD
00334664 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 5 LOVD
00426191 10SS5400 PubMed: Al-Kasbi 2022 patient, other affecteds in family M yes Oman - - - - - ID Hypotonia, global developmental delay, and seizures. Parents are healthy 1 1 Johan den Dunnen
00448212 Pat100 PubMed: Poli 2024 - F - Chile - - - - - ? intellectual disability-moderate; seizure; autism spectrum disorder; aggressive behavior; short stature 1 1 Johan den Dunnen
00472431 - - - F - Germany - - - - - MR;ID Neurodevelopmental delay, Autistic behavior, Hypotonia 1 1 Andreas Laner
00472478 Pat1 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; developmental delay; intellectual disability (IQ=25); autism; aggressive, attention deficit hyperactivity disorder/attention deficit disorder; 36m-walk; 10y-speech, short sentences; hypotonia; no seizures, EEG abnormal; MRI brain microcephaly, cerebellar vermis hypoplasia; ptosis, hypermetropia, alternating esotropia; no gastrointestinal anomalies; unilateral cryptorchidism; patent foramen ovale; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; limb hypertonia, upper limb tremor, scoliosis, joint hypermobility, cleft fifth lumbar arch; long face, arched sparse eyebrows, long eyelashes, bilateral ptosis, upslanted palpebral fissure, strabismus, high nasal root, broad nasal tip, short philtrum, widely spaced teeth Extremities: pes valgus Chest: asymmetry of the thorax, pectoral hypoplasia/aplasia, short clavicles 1 1 Johan den Dunnen
00472479 Pat2 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; fine motor developmental delay; no intellectual disability; autism (Asperger); no behavioral problems; 18m-walk; normal speech; no hypotonia; no seizures; MRI brain intraparenchymal hemorrhage secondary to arteriovenous malformation; no visual anomalies; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; no history of easy bruising, coagulation and blood count tests were normal; asthma in infancy, recurrent laryngitis; no dysmorphic features 1 1 Johan den Dunnen
00472480 Pat3 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; developmental delay; intellectual disability (IQ=56); anxiety, aggression; delayed sit; delayed walk; delayed speech; MRI brain normal; no history of easy bruising and/or bleeding, enlarged platelets not measured; synophris, sparse scalp hair, widely spaced teeth 1 1 Johan den Dunnen
00472481 Pat4 PubMed: Chilton 2020 2-generation family, affected fetus (terminated 27wg), unaffected non-carrier parents M - - - <0d - - - NDD see paper; ..., prenatal cystic hygroma, progressive ventriculomegaly; normal growth;; 1 1 Johan den Dunnen
00472482 Pat5 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., prenatal dilated cerebral ventricles, dilated renal pelvices; neonatal magnesium toxicity; normal growth; developmental delay; no intellectual disability; autism; aggressive; 9m-sit; 19m-walk; 12m-speech, full sentences; hypotonia; seizures, partial complex; MRI brain thinning corpus callosum, supratentorial white matter volume loss, communicating hydrocephalus with prominent disproportionate dilation of the lateral and third ventricles with moderate prominence cerebral sulci; no visual anomalies; constipation; micropenis, cryptorchidism, chordee; no cardiovascular anomalies; bilateral high frequency sensorineural hearing loss; left parietal cephalohematoma; macrocephalic, plagiocephaly, broad forehead, mild prognathism, hooded lids, downslanting palpebral fissures, downslanting eyebrows, sparse right lateral eyebrow, slightly low columella, narrow and smooth philtrum, thin upper vermillion Extremities: tapered thumbs and fingers, short nail beds 1 1 Johan den Dunnen
00472483 Pat6 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no prenatal anomalies; neonatal nesaturations, hypoglycemia, jaundice; normal growth; developmental delay; intellectual disability; autism; repetitive/stereotypical behavior; 6m-sit; 14m-walk; 15m-speech, babbling, speech regression; axial hypotonia; seizures; MRI brain mild brainstem/cerebellar vermis hypoplasia, decreased white matter occipital horns, fatty filum terminale with large extradural sacral arachnoid cyst; no visual anomalies; no gastrointestinal anomalies; no genitourinary anomalies; PDA; recurrent otitis media; no dysmorphic features 1 1 Johan den Dunnen
00472484 Pat7 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal anomalies; neonatal naundice, feeding difficulties; short stature; developmental delay; intellectual disability; no autism; no behavioral problems; 22m-sit; walk not acquired; 4y-speech, single words; hypotonia; seizures, generalized convulsions; MRI brain cerebellar vermis hypoplasia, agenesis of the corpus callosum, pituitary hypoplasia; unilateral strabismus; no gastrointestinal anomalies; micropenis, cryptorchidism; ectopic and fused kidneys, partial gh deficiency; occipital plagiocephaly, frontal bossing, small low-set ears, large mouth, no incisor 1 1 Johan den Dunnen
00472485 Pat8 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal anomalies; no neonatal aproblems; underweight; no developmental delay; no intellectual disability; no autism; no behavioral problems; 6m-sit; 12m-walk; 12m-speech; no hypotonia; no seizures; MRI brain normal; no visual anomalies; gastrointestinal malrotation; no genitourinary anomalies; no cardiovascular anomalies; right-sided congenital diaphragmatic hernia, frequent vomiting, g-tube fed; no dysmorphic features 1 1 Johan den Dunnen
00472486 Pat9 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; speech delay; no intellectual disability; autism; repetitive/stereotypical behavior, anxiety; normal age sit; normal age walk; 12m-speech, regression; hypotonia; no seizures; MRI brain normal; constipation; epistaxis, recurrent otitis media; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; frequent upper respiratory infection; no dysmorphic features 1 1 Johan den Dunnen
00472487 Pat10 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., reduced fetal movement; neonatal jaundice; overweight; developmental delay; intellectual disability (IQ=80); no autism; overeating, sneaking food; 24m-walk; delayed speech; hypotonia; no seizures; MRI brain normal; amblyopia; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; no dysmorphic features 1 1 Johan den Dunnen
00472488 Pat11 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier mother F - - - - - - - NDD see paper; ..., prenatal polyhydramnios; no neonatal aproblems; normal growth; developmental delay; intellectual disability; autism; no behavioral problems; 5y-speech; no hypotonia; no seizures; MRI brain septo-optic dysplasia; septo-optic dysplasia, optic atrophy; constipation; no genitourinary anomalies; no cardiovascular anomalies; recurrent otitis media; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; obstructive sleep apnea; high forehead, broad nasal tip, sparse hair and eyebrows, full cheeks Extremities: Long, thin fingers with ulnar deviation of left middle finger, hyperextension of distal fifth fingers, short fourth and fifth metatarsals, cone-shaped epiphyses chest pectus excavatum 1 1 Johan den Dunnen
00472489 Pat12 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., no prenatal anomalies; no neonatal aproblems; tall and thin body habitus; proportionate; global developmental delay; intellectual disability(FSIQ=83); autism; aggressive/violent behavior, self-injurious, attention deficit hyperactivity disorder, anxiety, impulsivity; delayed speech; generalized hypotonia; no seizures; MRI brain normal; congenital ptosis; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; chronic nasal congestion, adenotonsillar hypertrophy; obstructive sleep apnea, sleep disturbance, poor balance, poor coordination, joint hypermobility; dolichocephaly, low anterior hairline, downslanted palpebral fissures, ptosis, hypertelorism, telecanthus, thick arched eyebrows, thick helical cartilage, uplifted left earlobe, high nasal bridge, anteverted nares, micrognathia, thin vermilion, large maxillary central incisors Extremities: pes planus, tapered fingers, single palmar creases chest pectus excavatum 1 1 Johan den Dunnen
00472490 Pat13 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., prenatal polyhydramnios; neonatal left pyelectasis with Grade 2 reflux; overweight; speech delay; no intellectual disability; no autism; overeating; 6m-sit; 13m-walk; delayed speech, 5 words; hypotonia, 10m-positive slip through; no seizures; MRI brain benign enlargement of sub-arachnoid spaces; no visual anomalies; silent aspiration; hypospadias; no cardiovascular anomalies; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; left pelviectasis with grade 2 reflux; macrocephalic, hypertelorism (intercanthal distance >2.3 SD), small palpebral fissures, flat nasal bridge, anteverted nares, tongue tie 1 1 Johan den Dunnen
00472491 Pat14 PubMed: Chilton 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., intra-uterine growth restriction, oligohydramnios; short stature; developmental delay; autism; attention deficit hyperactivity disorder/attention deficit disorder, mood and behavior problems; 9m-sit; 15m-walk; 4y-speech, sentences; no seizures; wears glasses; cryptorchidism; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; Extremities: wide feet, short and broad fingers epicanthus inversus; wide umbilicus 1 1 Johan den Dunnen
00472492 family PubMed: Luo 2020 3-generation family, 3 affectd sistrs, unaffected heterozugous carrier parents F - China - - - - - ? see paper; ..., septate uterus 1 3 Johan den Dunnen
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