All individuals with variants in gene CDC42

36 entries on 1 page. Showing entries 1 - 36.
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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
00471016 356816 - - M no Germany - - - - - CRS3, TKS Craniosynostosis, Hypertelorism, Joint contracture, Arachnodactyly, Patent ductus arteriosus, Microcephaly, Penile hypospadias, Brachyturricephaly, Abnormality of the face, High palate, Abnormality of the outer ear, Pectus excavatum, Sacral dimple, Talipes equinovarus, Sandal gap, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Inguinal hernia 1 1 Andreas Laner
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