All individuals with variants in gene DPYSL5

10 entries on 1 page. Showing entries 1 - 10.
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00372568 Pat1 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 38w, length 50 cm/67th, weight 3,360 g/68th; OFC −2.5 SD; weak fetal movements; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 3y6m-sitting; 7y-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; aggressiveness; stereotypic movements; strabismus; no seizures; corpus callosum agenesis; hippocampal dysplasia; cerebellar hypoplasia; no hydrocephaly; no short stature; scoliosis; feet malposition, limited extension of the knees; no heart defect; micropenis; brachycephaly, deep-set eyes, short philtrum, full lips, macrostomia, ulnar deviation of the hands, narrow hands 1 1 Johan den Dunnen
00372569 Pat2 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 42w, weight 3,040 g/7th; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 1y6m-sitting; 1y6m-walking; no toilet trained; no swallowing difficulties; no autism spectrum disorder; no behavioral problems; no abnormal movements; no ataxia; no strabismus; no seizures; corpus callosum agenesis; hippocampal dysplasia; no cerebellar hypoplasia; no hydrocephaly; no short stature; no scoliosis; no heart defect; no abnormal genitalia; no dysmorphic features 1 1 Johan den Dunnen
00372570 Pat3 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 42w, weight 4,600 g/97th; OFC −0.3 SD; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; no sitting; no walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; choreatic movements; no ataxia; strabismus; generalized tonic-clonic seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; no short stature; scoliosis; premature closure of anterior fontanel; no heart defect; micropenis, cryptorchidism; prominent eyes and upper lip, large ears 1 1 Johan den Dunnen
00372571 Pat4 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 40w, weight 3,800 g/75th–90th; OFC 10th centile; delayed development; hypotonia; severe intellectual disability; no degree; no absent speech; no sitting; no walking; no toilet trained; no swallowing difficulties; no autism spectrum disorder; sensory processing disorder; no abnormal movements; ataxia; no strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; no short stature; scoliosis; hip dysplasia requiring surgery; no heart defect; deep set eyes, hypotelorism, high and narrow palate 1 1 Johan den Dunnen
00372572 Pat5 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 39w, weight 3,685 g/75th; OFC −2.2 SD; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 20m-sitting; no walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; aggressiveness; athetoid and stereotypic movements; ataxia; strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; short stature; scoliosis; hip dislocation; no heart defect; no abnormal genitalia; plagiocephaly, hypotelorism, deep set eyes, high and narrow palate, tapering fingers 1 1 Johan den Dunnen
00372573 Pat6 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 39w, weight 3,969 g/95th, OFC 39.5cm/>97th; OFC −0.7 SD; dilated ventricles at 36 weeks; delayed development; hypotonia; intellectual disability; no absent speech; 21m-sitting; 3y-walking; no toilet trained; swallowing difficulties; autism spectrum disorder; aggressiveness; arm extension movements; wide gait; no strabismus; abnormal movements treated with levetiracetam, EEG normal; corpus callosum agenesis; abnormal myelination; no short stature; no scoliosis; hypermobile joints; no heart defect; no abnormal genitalia; curly hair, hypertelorism, downslanting palpebral fissures, broad nasal root 1 1 Johan den Dunnen
00372574 Pat7 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 39w, length 49 cm/42nd, weight 2,600 g/6th; OFC −3.7 SD; weak fetal movements; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 12m-sitting; 5y6m-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; aggressiveness; no abnormal movements; no ataxia; strabismus; focal seizures; corpus callosum agenesis; no hippocampal dysplasia; no cerebellar hypoplasia; no hydrocephaly; Dandy-Walker malformation, encephalocele with intracranial hypertension; short stature; scoliosis; declination of the body to the left side; no heart defect; no abnormal genitalia 1 1 Johan den Dunnen
00372575 Pat8 PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD birth 40w, length 53.3 cm/90th, weight 3,200 g/33rd; OFC 26th centile; None; delayed development; hypotonia; severe intellectual disability; no degree; absent speech; 18m-sitting; 5y-walking; no toilet trained; swallowing difficulties; no autism spectrum disorder; impulse control; involuntary movements; strabismus; no seizures; corpus callosum agenesis; cerebellar hypoplasia; no hydrocephaly; short stature; no scoliosis; no heart defect; no abnormal genitalia 1 1 Johan den Dunnen
00372576 Pat9 PubMed: Ritscher 1987, PubMed: Jeanne 2021, {DOI:Jeanne 2021:33894126:10.1016/j.ajhg.2021.04.004} 2-generation family, 2 affected, unaffected non-carrier parents F - Switzerland - - - - - NDD see paper; ..., birth 37w, length 51 cm/90th, weight 3,100 g/75th, OFC 34.8 cm/90th; OFC +3.9 SD hydrocephaly; delayed development; hypotonia; no absent speech; no swallowing difficulties; no seizures; no corpus callosum agenesis; cerebellar hypoplasia; hydrocephaly; short stature; no scoliosis; 11 pairs of ribs, foramina parietalia, large fontanelles; atrio-ventricular canal; slightly gaping vulva; ocular hypertelorism, downslanting palpebral fissures, depressed nasal bridge, apparently low-set ears, narrow palate 1 2 Johan den Dunnen
00466181 - - - F - Brazil - - - - - ? Heart defect, Microcephaly, Intellectual disability, Short stature 1 1 Juliana Mazzeu
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