All individuals with variants in gene NCDN

6 entries on 1 page. Showing entries 1 - 6.
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Phenotype details     
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00359631 Fam1PatII1 PubMed: Fatima 2021 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents M yes Pakistan - - - - - NDD length 160 cm 16y (-2.5 SD), OFC 53 cm 14y (-1.1 SD); no facial dysmorphisms; 3y-walk, normal ambulation; 2y-3y-first words, 16y-normal speech; 16y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; generalized seizures, 1-2/motnh; MRI-brain normal structures; EEG-slightly abnormal 1 3 Johan den Dunnen
00359632 Fam1PatII2 PubMed: Fatima 2021 sister F yes Pakistan - - - - - NDD length 149 cm 15y (-2.5 SD), OFC 50 cm 13y (-2.8 SD); no facial dysmorphisms; 5y-walk, normal ambulation; 2y-first words, 15y-normal speech; 15y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; rare febrile seizures, generalized seizure (fever induced); EEG-slightly abnormal 1 1 Johan den Dunnen
00359633 Fam1PatII3 PubMed: Fatima 2021 sister F yes Pakistan - - - - - NDD length 145 cm 14y (-2.5 SD), OFC 50 cm 12y (-2.6 SD); no facial dysmorphisms; 1y-walk, normal ambulation; 2y-first words, 14y-normal speech; 14y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; rare febrile seizures, generalized seizure (fever induced); EEG-slightly abnormal 1 1 Johan den Dunnen
00359634 Fam2PatII1 PubMed: Fatima 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - NDD length 152 cm 11y (+2.0 SD), OFC 51 cm 10y (-1.5 SD); no facial dysmorphisms; 14m-walk, normal ambulation; 3y-first words, 13y-profound speech problems; 10y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; no seizures; 3y-EEG-normal 1 1 Johan den Dunnen
00359635 Fam3PatII1 PubMed: Fatima 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - NDD length 96 cm 3y (+0.7 SD), OFC 47 cm 3y (-1.6 SD); high arched palate; 3y-walk, normal ambulation; 2y-first words; normal vision; noral hearing; moderate intellectual disability; seizures, 50 times/day prior to treatment, epileptic spasms, focal; MRI-brain delayed myelination; 4m-EEG-hypsarrhythmia 1 1 Johan den Dunnen
00359636 Fam4PatII1 PubMed: Fatima 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - NDD length 92 cm 5y (-3.2 SD), OFC 49 cm 5y (-0.8 SD); esotropia, hypertelorism, epicanthus; 5y-unable to walk; 5y-no meaningful words; normal vision; noral hearing; severe intellectual disability; seizures,5 times/day prior to treatment, epileptic spasms, myoclonus; MRI-brain normal structures; 1y-EEG-hypsarrhythmia 1 1 Johan den Dunnen
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