All individuals with variants in gene CDC42

35 entries on 1 page. Showing entries 1 - 35.
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00050634 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability 1 1 Johan den Dunnen
00100300 patient PubMed: Takenouchi 2015, Journal: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F no Japan Japanese; Iranian - - - - TKS see paper; ..., macrothrombocytopenia, developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; lymph edema; cardio-vascular anomalies; thrombocytopenia; recurrent infections; no inflammation; Eczema, inguinal hernia 1 1 Johan den Dunnen
00100301 patient PubMed: Takenouchi 2016, Journal: Takenouchi 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - TKS see paper; ..., macrothrombocytopenia, developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; lymph edema; no cardio-vascular anomalies; thrombocytopenia; no recurrent infections; lymphopenia; no inflammation; retinal dysplasia, intestinal lymphangiectasia 1 1 Johan den Dunnen
00100305 patient PubMed: Motokawa 2018 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - TKS see paper; ...,developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; lymphopenia; no inflammation; hypogammaglobulinemia 1 1 Johan den Dunnen
00269936 - - - M - - - - - - - ? Hypospadias (HP:0000047); Microcephaly (HP:0000252); Epicanthus (HP:0000286); Strabismus (HP:0000486); Myopia (HP:0000545); Delayed speech and language development (HP:0000750); Seizures (HP:0001250); Global developmental delay (HP:0001263); Agenesis of corpus callosum (HP:0001274); Dandy-Walker malformation (HP:0001305); Polymicrogyria (HP:0002126); Gait imbalance (HP:0002141); Abnormality of mouth size (HP:0011337) 1 1 IMGAG
00289738 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00303066 Pat108 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset unknown 1 1 Johan den Dunnen
00303481 Pat1 PubMed: Lam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white >6y - - - HLH see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; CNS inflammatory disease, 2y-3 episodes with generalized seizures, white and gray matter lesions in MR; gastrointestinal symptoms diarrhea, 11m-intestinal bleeding, 5y-intestinal infarction; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, constant transfusion dependent V2y; profound neutropenia; monocytopenia; acute-phase response; BM dysplasia; suspected trigonocephaly 1 1 Johan den Dunnen
00303482 Pat2 PubMed: Lam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white 6m - - - HLH see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; no CNS inflammatory disease; chronic diarrhea; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, intermittent transfusion during flares; profound neutropenia; monocytopenia; acute-phase response; BM dysplasia; 6m-died 1 1 Johan den Dunnen
00303483 Pat3 PubMed: Lam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white 1y6m - - - HLH see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; no CNS inflammatory disease, increased CSF protein and MRI with leptomeningitis; small intestine inflammation; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, transfusion dependent; profound neutropenia; acute-phase response; BM dysplasia; 1y6m-died 1 1 Johan den Dunnen
00303484 Pat4 PubMed: Lam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Middle East 4m15d - - - HLH see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; no splenomegaly; no CNS inflammatory disease; severe, unremitting enterocolitis from birth, diarrhea with intestinal bleedings and infarctions; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, transfusion dependent; mild neutropenia; acute-phase response; BM dysplasia; very small thymus; arthritis; 4.5m-died 1 1 Johan den Dunnen
00303487 patient PubMed: Takenouchi 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - THC see paper; ..., birth 39w, weight 2,290 g (−1.8 SD), length 46 cm (−1.5 SD); arched eyebrows, mild ptosis, eversion lateral portio lower eyelid, exotropia, midfacial hypoplasia, short philtrum, thin upper lip, malocclusion; length 135 cm (−4.3 SD), weight 33 kg (−3.0 SD); psychomotor development delayed walk-3y no seizures/no epilepsy; no ataxia; no cerebellar atrophy; ventriculomegaly; platelet count 63,000/μl, platelet size increased hemoglobin 12.5 g/dl; white blood count 2,300/μl; progressive microcephaly; camptodactyly; lymphedema; protein‐losing enteropathy; sensory neural hearing loss; no patent ductus arteriosus; no inguinal hernia 1 1 Johan den Dunnen
00303488 patient PubMed: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Iran;Japan - - - - - THC see paper; ..., birth 39w, weight 2,980 g (±0.0 SD), length 50 cm (+0.6 SD); arched eyebrows, mild ptosis, eversion lateral portio lower eyelid, exotropia, midfacial hypoplasia, short philtrum, thin upper lip, malocclusion; length 150 cm (−1.5 SD), weight 39 kg (−1.6 SD); psychomotor development delayed walk-4y no seizures/no epilepsy; ataxia; no cerebellar atrophy ventriculomegaly; platelet count 98,000/μl, platelet size increased hemoglobin 13.5 g/dl; white blood count 4,600/μl; progressive microcephaly; camptodactyly; lymphedema; no protein‐losing enteropathy; sensory neural hearing loss; 1y-patent ductus arteriosus surgically ligated inguinal hernia, operated 1 1 Johan den Dunnen
00303491 Pat1 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight –2 SD; OFC –2 SD; postnatal growth deficiency; developmental delay/initellectual disability, no IQ testing, attention-deficit hyperactivity disorder; no seizures; hypotonia; myopia; café au lait spots; scoliosis; inguinal hernia; unilateral renal agenesis; no lymphatic malformations; recurrent infections, recurrent otitis media; prominent forehead; wide palpebral fissures; unilateral ptosis; high narrow nasal bridge; no flared nostrils; broad nasal tip; low-hanging columella; underdeveloped midface; normal philtrum; no thin upper vermillion; cupid bow mouth; large ears; synophrys, prominent metopic suture; MRI brain no features 1 1 Johan den Dunnen
00303492 Pat2 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight –1.5 SD, OFC –2 SD; postnatal weight –1 SD, OFC –3.5 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; seizures; hypotonia; low growth hormone; no hypothyroidism; no immunodeficiency; camptodactyly; optic atrophy; normal skin; no pectus; scoliosis; inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal hair; normal eyebrows; normal forehead; no hypertelorism; wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; high nasal bridge; no flared nostrils; up nasal tip; low-hanging columella; no underdeveloped midface; short philtrum; no thin upper vermillion; corners down mouth; normal ears; long neck; MRI brain diffuse atrophy, decreased white matter, ventriculomegaly, thin corpus callosum, diffuse atrophy, mild vermis hypoplasia 1 1 Johan den Dunnen
00303493 Pat3 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? birth weight -2 SD, OFC –2.2 SD; postnatal weight –0.9 SD, OFC –4.3 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia, contractures; no endocrine issues; hypothyroidism; immunodeficiency; camptodactyly, distal arthrogry posis; pale optic nerves; exzema; no pectus; scoliosis; inguinal hernia; cardiac ASD/VS D/PDA; renal pelviectasis; no lymphatic malformations; recurrent infections; hair whorls; medial flared eyebrows; short forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; narrow nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; short philtrum; thin upper vermillion; wide mouth; small low-set ears; upslanting palpebral fissures, medial flared eyebrows, small chin; MRI brain mildly thin white matter, ventriculomegaly, thin corpus callosum 1 1 Johan den Dunnen
00303494 Pat4 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight –4 SD; postnatal weight –5 SD, OFC –0.5 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia; low growth hormone; no hypothyroidism; immunodeficiency; syndactyly; hyperopia, strabismus, optic atrophy, thick corneas; skin multiple nevi; no pectus; scoliosis; no inguinal hernia; no cardiac defects; renal dysplasia; pericardial effusion; recurrent infections; hair whorls; normal eyebrows; broad forehead; no hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; no ptosis; high narrow nasal bridge; no flared nostrils; broad nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; thin upper vermillion; wide mouth; normal ears; cleft palate, widely spaced teeth; MRI brain mildly prominent perivascular white matter signal intensities (posteriorly), mildly thick corpus callosum 1 1 Johan den Dunnen
00303495 Pat5 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? postnatal weight –5 SD, OFC –3.5 SD; postnatal growth deficiency; developmental delay/initellectual disability; normal hands, normal feet; normal skin; no pectus; no scoliosis; no inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal hair; normal eyebrows; normal forehead; no hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; no ptosis; normal nasal bridge; no flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; no thin upper vermillion; normal mouth; normal ears 1 1 Johan den Dunnen
00303496 Pat6 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight 0 SD, OFC –0.25 SD; postnatal weight –2.4 SD, OFC –2 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus; skin maculopa pular cutaneous eruption; pectus; no scoliosis; inguinal hernia; hypertrophic cardiomyopathy; no gastrourigenital defects; no lymphatic malformations; recurrent infections; sparse hair, hair whorls; sparse eyebrows; prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; long philtrum; thin upper vermillion; normal mouth; ears thick helix; webbed neck; MRI brain mildly prominent perivascular white matter signal intensities (posteriorly), ventriculomegaly, increased extra-axial space, mildly thin corpus callosum, large tectum 1 1 Johan den Dunnen
00303497 Pat7 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? birth weight 0 SD, OFC +1.5 SD; postnatal weight –1.3 SD, OFC +0.25 SD; no postnatal growth deficiency; severe developmental delay/initellectual disability; 4 febrile seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; long thin fingers; Astigmatism; normal skin; no pectus; no scoliosis; bilateral inguinal hernia; ventricular septal defect, patent foramen ovale; no gastrourigenital defects; no lymphatic malformations; recurrent infections; sparse hair; sparse eyebrows; broad forehead,prominent forehead; mild hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; long philtrum; thin upper vermillion; cupid bow mouth; low-set ears; MRI brain subependymal heterotopia, partial agenesis corpus callosum 1 1 Johan den Dunnen
00303498 Pat8 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight –1.5 SD; OFC –2.6; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus; normal skin; no pectus; no scoliosis; no inguinal hernia; no cardiac defects; penile webbing; no lymphatic malformations; recurrent infections; normal hair; normal eyebrows; broad forehead,prominent forehead; hypertelorism; wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; long philtrum; thin upper vermillion; low-set ears; MRI brain mild partial agenesis corpus callosum, mega cisterna magna 1 1 Johan den Dunnen
00303499 Pat9 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight 0 SD; postnatal weight –1.5 SD, OFC +2 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; seizures; no hypotonia, no contractures; low growth hormone; hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus; normal skin; no pectus; scoliosis; no inguinal hernia; total anomalous pulmonary venous return coarctation; no gastrourigenital defects; no lymphatic malformations; recurrent infections; hair whorls; normal eyebrows; broad forehead,prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; no flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; long philtrum; thin upper vermillion; cupid bow mouth, wide mouth; low-set ears; broad jaw, widely spaced teeth; MRI brain mild periventricular, white matter abnormalities (periventricular leukomalacia), hydrocephalus s/p shunting, mildly thin corpus callosum 1 1 Johan den Dunnen
00303500 Pat10 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight –0.75 SD, OFC 0 SD; postnatal weight +2 SD, OFC 0 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; myoclonic seizures; contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; syndactyly, camptodactyly; strabismus; normal skin; no pectus; no scoliosis; inguinal hernia; no cardiac defects; no gastrourigenital defects; pericardial effusion/gut; recurrent infections; sparse hair, hair whorls; normal eyebrows; prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; no thin upper vermillion; wide mouth; normal ears; broad jaw, widely spaced teeth; MRI brain ventriculomegaly, cerebellar tonsillar ectopia 1 1 Johan den Dunnen
00303501 Pat11 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight –2 SD, OFC –3 SD; postnatal weight –2 SD, OFC –3 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia, contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; syndactyly, camptodactyly; strabismus, oculomotor palsy; normal skin; no pectus; no scoliosis; no inguinal hernia; patent foramen ovale; hypospadias; no lymphatic malformations; no recurrent infections; sparse hair; sparse eyebrows; prominent forehead; hypertelorism; wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; no flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; normal philtrum; no thin upper vermillion; cupid bow mouth; normal ears; MRI brain white matter signal intensities, partial agenesis corpus callosum, large posterior fossa, cerebellar foliar dysplasia, large inferior cerebellar peduncle, small middle cerebellar peduncle, stretched superior cerebellar peduncle, severe Dandy-Walker malformation, dysplastic thalami, small medulla/pons, cleft in tectum, abnormal superior colliculi, unilateral hippocampal dysplasia 1 1 Johan den Dunnen
00303502 Pat12 PubMed: Martinelli 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? birth weight –1 SD, OFC –1 SD; postnatal weight +0.5 SD, OFC –1.7 SD; no postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; myopia, strabismus; skin multiple nevi; pectus; no scoliosis; no inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; sparse hair; sparse eyebrows; normal forehead; hypertelorism; wide palpebral fissures; everted lateral eyelids; epicanthal folds; bilateral ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; no underdeveloped midface; deep philtrum; thin upper vermillion; normal mouth; large low-set ears; webbed neck 1 1 Johan den Dunnen
00303503 Pat13 PubMed: Martinelli 2018 4-generation family, 6 affected (2F, 4M), Fam30153Pat F - - - - - - - ? birth weight +0.25 SD; postnatal weight –2.5 SD, OFC –3.5 SD; postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus, optic atroph; normal skin; pectus; no scoliosis; no inguinal hernia; Pulmonary stenosis; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal eyebrows; broad forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; wise nasal bridge; flared nostrils; up broad nasal tip; no low-hanging columella; no underdeveloped midface; long philtrum; thin upper vermillion; corners down mouth; low-set ears; webbed neck 1 6 Johan den Dunnen
00303504 Pat14 PubMed: Martinelli 2018 Fam30153Fat M - - - - - - - ? postnatal weight –1.5 SD; no postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; normal skin; pectus; no scoliosis; no inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal eyebrows; broad forehead; no hypertelorism; no wide palpebral fissures; no epicanthal folds; normal nasal bridge; no flared nostrils; up broad nasal tip; no underdeveloped midface; long philtrum; thin upper vermillion; normal mouth; low-set ears; webbed neck 1 1 Johan den Dunnen
00303505 Pat15 PubMed: Martinelli 2018 Fam30153Aunt F - - - - - - - ? postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; normal skin; pectus; no scoliosis; no inguinal hernia; myocardial insufficiency;; no gastrourigenital defects; no lymphatic malformations; no recurrent infections 1 1 Johan den Dunnen
00303516 patient PubMed: Uehara 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - TKS see paper; ..., developmental delay; structural brain anomalies; sensorineural deafness; no camptodactily; hypothyroidism; no lymph edema; thrombocytopenia; no recurrent infections 1 1 Johan den Dunnen
00303517 patient PubMed: Bucciol 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - 26y - - - TKS see paper; 26y-died; ..., developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; no lymph edema; cardio-vascular anomalies; thrombocytopenia; recurrent infections; lymphopenia; inflammation; liver hemangiomas, hepatosplenomegaly, spleen and kidney nodules, aortic aneurysm, scoliosis, lung hemorrhages 1 1 Johan den Dunnen
00303518 Pat1 PubMed: Gernez 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? see paper; ..., no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; no recurrent infections; inflammation; Cytopenias, nodular rashes, arthralgias, hepatosplenomegaly, recurrent fever 1 1 Johan den Dunnen
00303519 Pat2 PubMed: Gernez 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? see paper; ..., no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, lymphadenopathy, hepatosplenomegaly, skin rash, recurrent fever, cholestasis, HLH 1 1 Johan den Dunnen
00303520 Pat3 PubMed: Gernez 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? see paper; ..., no developmental delay; no structural brain anomalies; growth retardation; no facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, skin rash, HLH, brain hemorrhage, hepatosplenomegaly, recurrent fever 1 1 Johan den Dunnen
00303521 Pat4 PubMed: Gernez 2019 2-generation family, 1 affected, unaffected non-carrier parents M - United States Hispanic - - - - ? see paper; ..., developmental delay; no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, brain hemorrhage, hepatosplenomegaly, skin rash, recurrent fever 1 1 Johan den Dunnen
00443839 Pat624 PubMed: Imafidon 2021 prenatal indication abnormal ultrasound M - Netherlands - - - - - ? dandy walker malformation, cerebellar cyst, dysmorphic features 1 1 Johan den Dunnen
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