All individuals with variants in gene DLL1

22 entries on 1 page. Showing entries 1 - 22.
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00261164 Fam1 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); no stereotypic behavior (-HP:0000733); no seizures (-HP:0001250); muscular hypotonia (HP:0001252); ataxia (HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); transient neonatal hyperbilirubinemia, feeding difficulty in infancy 1 1 Johan den Dunnen
00261165 Fam2PatI2 (mother) Journal: Fischer-Zirnsak 2019 2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); 1 4 Johan den Dunnen
00261166 Fam2PatII1 Journal: Fischer-Zirnsak 2019 - M - - - - - - - DD no developmental delay (-HP:0012758), no intellectual disability (-HP:0001249); autism spectrum disorder (HP:0000729); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); hydrocephalus (HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); megacisterna magna; sacral dimple 1 1 Johan den Dunnen
00261167 Fam2PatII2 Journal: Fischer-Zirnsak 2019 - M - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); apraxia 1 1 Johan den Dunnen
00261168 Fam2PatII4 Journal: Fischer-Zirnsak 2019 - F - - - - - - - DD no developmental delay (-HP:0012758), no intellectual disability (-HP:0001249); no autism spectrum disorder (-HP:0000729); abnormal brain MRI (HP:0012443); no ventriculomegaly (-HP:0002119); hydrocephalus (HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; facial dysmorphism (HP:0000271); bilateral single palmar crease 1 1 Johan den Dunnen
00261169 Fam3PatII1 (son) Journal: Fischer-Zirnsak 2019 2-generation family, affected father/son, unaffected heterozygous carrier parents M - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); ataxia (HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); severe with compression of the overlying cortex; thin/streched; no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); thin brainstem, small cerebellum; abnormal prenatal brain imaging; horacic lordosis, thoracolumbar scoliosis; no microcephaly (-HP:0000252); macrocephaly (HP:0000256); no facial dysmorphism (-HP:0000271); mild cerebral palsy; hypoplasia of external genitalia; mild neonatal hyperbilirubinemia 1 2 Johan den Dunnen
00261170 Fam4 Journal: Fischer-Zirnsak 2019 son M - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); no muscular hypotonia (-HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); no ventriculomegaly (-HP:0002119); no hydrocephalus (-HP:0000238); mildly short and thick; subtle cortical dysplasia (HP:0002539); no migration defect (-HP:0002269); no abnormal prenatal brain imaging; kyphosis, mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); Tourette's, a mood disorder, oppositional defiant disorder, dysfunction voiding of urine, atypical nevus of cheek; persistent hyperbilirubinemia 1 1 Johan den Dunnen
00261171 Fam5 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); no seizures (-HP:0001250); no muscular hypotonia (-HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); mild ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); mild dysplastic; mild cortical dysplasia (HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; scoliosis, kyphosis, hemivertebra L2, asymmetry S1 vertebra; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); gallsone in infancy; recurrent infections; multifocal syringomyelia; aggressive behavior 1 1 Johan den Dunnen
00261172 Fam6 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); no seizures (-HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); mild ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); mild dysplastic; no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); relatively large brain size; no abnormal prenatal brain imaging; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); episodic upward eye movement, EEG normal 1 1 Johan den Dunnen
00261173 Fam7 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); no seizures (-HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); no abnormal prenatal brain imaging; microcephaly (HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271);  small joint hypermobility 1 1 Johan den Dunnen
00261174 Fam8 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); abnormal corpus callosum (HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); strabism, exotropia, sleep apnea; deep set eyes, long stright nose, flat malar, self-stimulating behavior 1 1 Johan den Dunnen
00261175 Fam9 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); no muscular hypotonia (-HP:0001252); ataxia (HP:0001251); abnormal brain MRI (HP:0012443); mild; no hydrocephalus (-HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); periventricular nodular heterotopia; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); no facial dysmorphism (-HP:0000271); depression 1 1 Johan den Dunnen
00261176 Fam10 Journal: Fischer-Zirnsak 2019 2-generation family, affected fetus (33+2w gestation), unaffected heterozygous carrier parents M - - - - - - - DD ; abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; no abnormal vertebrae (-HP:0003468); no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); 1 1 Johan den Dunnen
00261177 Fam11 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); no muscular hypotonia (-HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); no ventriculomegaly (-HP:0002119); no hydrocephalus (-HP:0000238); mildly short and dysplastic; subtle cortical dysplasia (HP:0002539); no migration defect (-HP:0002269); mildly small pons; no abnormal prenatal brain imaging; no facial dysmorphism (-HP:0000271); 1 1 Johan den Dunnen
00261178 Fam12 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); ataxia (HP:0001251); no abnormal brain MRI (-HP:0012443); no ventriculomegaly (-HP:0002119); no hydrocephalus (-HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); -; no abnormal prenatal brain imaging; microcephaly (HP:0000252); no macrocephaly (-HP:0000256); no facial dysmorphism (-HP:0000271); horseshoe kidney on prenatal ultrasound; transient neonatal hyperbilirubinemia 1 1 Johan den Dunnen
00359563 - - - F no Italy - - - - - ? Developmental and speech delay and behavior problems appeared in infancy, strabismus, mild intellectual disability, attention deficit hyperactivity disorder (ADHD). Brain MRI: rostrum hypoplasia; relative thickening of the genu and of the anterior part of the body of the corpus callosum; mild thickening and asimmetry of the fornices associated with persistence of a very small remnant of the septum pellucidum cave; bilateral hypoplasia and incomplete hippocampal inversion and asymmetric colpocephaly; reduced diameters of the third ventricle; stenotic cerebral acqueduct; quite severe pontine hypoplasia (antero-posterior and caudo-cranial diameters reduction) associated with slight dysmorphism of the midbrain; cerebellar hypoplasia especially involving the vermis; anterior pituitary diameters below the normal for age, in absence of other stalk or neuropituitary abnormalities; severe bilateral hypoplasia of olfactory sulcus and olfactory bulbs and tracts; very thin hypoplastic anterior commissure. 1 1 Sara Nuovo
00359564 - - - F no Italy - - - - - ? Suspected ponto-cerebellar and corpus callosum hypoplasia at prenatal ultrasound. Febrile seizures and suspected encephalitis, treated with Acyclovir and Ceftriaxone at the age of 16 months. No more seizures were reported. Neurodevelopmental delay. Brain MRI: thinnning of the corpus callosum; bilateral hippocampal inversion; hypoplastic pons, slightly dysmorphic midbrain with shallower interpeduncolar cistern; reduction of longitudinal diameter of the vermis; mild colpocephaly and reduced diameters of the third ventricle; bilateral olfactory sulcus hypoplasia; olfactory bulbs and tracts agenesia. 1 1 Sara Nuovo
00359565 - - - F ? Italy - - - - - ? mild intellectual disability; MRI-brain mild thickening of the corpus callosum and fornices; persistence of a very small remnant of the septum pellucidum cave; thin acqueduct and third ventricle; hypoplasia of the pons, vermis and cerebellar hemispheres, associated with volume reduction of declive, folium and tuber lobules and primary fissure enlargement; hypoplasia of olfactory sulci, tracts and bulbs. 1 1 Sara Nuovo
00385133 181606 - - F no Germany - - - - - NEDBAS Ataxia, Global developmental delay, Mild global developmental delay 1 1 Andreas Laner
00449871 - - - M - - - - - - - SCZD Schizophrenia, Scoliosis, Aplasia/Hypoplasia of the cerebellar vermis, Neurodevelopmental delay 1 1 Camille Verebi
00451698 - - - M - - (not applicable) white - - - - ? HP:0000717, HP:0001256, HP:0040183, HP:0002721, HP:5200430 1 1 Marketa Wayhelova
00458109 - - - F - - (not applicable) white - - - - ? HP:0001252, HP:0001270, HP:0002194, HP:0001288, HP:0001347, HP:0010769, HP:0001848, HP:0002353 1 1 Marketa Wayhelova
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