Disease #05365 (NEDHCAS (neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures), OMIM:618879)

Official abbreviation NEDHCAS
Name neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
OMIM ID 618879
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 23
Phenotype entries for this disease 23
Associated with 1 gene PIGK
Associated tissues -
Disease features -
Remarks -
Date created 2017-12-29 14:39:52 +01:00 (CET)
Date last edited 2024-07-24 10:12:34 +02:00 (CEST)


Individuals

23 entries on 1 page. Showing entries 1 - 23.
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00147023 29100095-Fam1PaiII1/2 PubMed: NGuyen 2017 2-generation family, sister/brother, unaffected heterozygous carrier parents F;M - United States Hispanic - - - - NEDHCAS see paper; ... GPAA1 GPAA1 2 2 Johan den Dunnen
00147024 29100095-Fam2PatII2 PubMed: NGuyen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no United States - - - - - NEDHCAS see paper; ... GPAA1 GPAA1 2 1 Johan den Dunnen
00147025 29100095-Fam3PatII2/3 PubMed: NGuyen 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Egypt - - - - - NEDHCAS see paper; ... GPAA1 GPAA1 2 2 Johan den Dunnen
00147026 29100095-Fam4PatVII1/2/3 PubMed: NGuyen 2017 7-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - NEDHCAS see paper; ... GPAA1 GPAA1 1 3 Johan den Dunnen
00147027 29100095-Fam5PatVII2/4 PubMed: NGuyen 2017 2-generation family, affected brothers, unaffected heterozygous carrier parents M no Finland - - - - - NEDHCAS see paper; ... GPAA1 GPAA1 2 2 Johan den Dunnen
00207523 28771251-Pat64 PubMed: Lionel et al., 2018 Variant found in a patient with a clinical phenotype suggestive of an underlying genetic disorder using WGS M - Canada - - - - - NEDHCAS Global developmental delay; muscular hypotonia; febrile seizures; decreased activity of mitochondrial complex II PIGG PIGG 1 1 Philippe Campeau
00207526 Case 1 PubMed: Mogami et al., 2018 3 siblings with mutations in the PIGL gene. They lacked three symptoms of CHIME syndrome (eye colobomas, heart defects, and ear anomalies). These patients are the first published cases of inherited GPI anchor deficiency with stimulation- induced epileptic myoclonic seizures, confirmed by ictal EEG. F no Japan Japanese >02y02m - - Antiepileptic medications. Vitamin B6 but not effective. NEDHCAS Ichthyosiform dermatosis at birth. Dysmorphic facial features (hypertelorism, brachycephaly, epicanthal folds, flat broad nasal root, full lips, widely spaced teeth, overfolded helices, thickened palms and soles. Myoclonic jerks evoked by sudden unexpected acoustic or tactile stimuli. Focal seizures. DD. Severe ID. Ear anomalies. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss. No renal abnormalities. Normal brain MRI. PIGL PIGL 1 1 Philippe Campeau
00207527 Case 2 PubMed: Mogami et al., 2018 Elder brother of Case 1 M no - - >09y04m - - Antiepileptic medications. Vitamin B6 but not effective. NEDHCAS Ichthyosiform dermatosis at birth. Dysmorphic facial features (hypertelorism, brachycephaly, epicanthal folds, flat broad nasal root, full lips, widely spaced teeth, overfolded helices, thickened palms and soles. DD. Severe ID. Ear anomalies. Myoclonic and focal seizures. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss. No renal abnormalities. Normal brain MRI. PIGL PIGL 1 1 Philippe Campeau
00207528 Case 3 PubMed: Mogami et al., 2018 Eldest brother of Case 1 and 2 M no - - >13y03m - - Antiepileptic medications NEDHCAS During pregnancy: foetal ultrasound shows congenital hydronephrosis. Ichthyosiform dermatosis at birth. Dysmorphic facial features (hypertelorism, brachycephaly, epicanthal folds, flat broad nasal root, full lips, widely spaced teeth, overfolded helices, thickened palms and soles. DD. Severe ID. Ear anomalies. Seizures: myoclonic, focal, absence, atonic. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss. PIGL PIGL 1 1 Philippe Campeau
00289333 Fam1PatII1 Ind1A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no India Asia - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; no skeletal findings; no low serum alkaline phosphatase PIGK PIGK 2 2 Philippe Campeau
00289334 Fam2PatII1 Ind2A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Italy - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; epilepsy/seizures; dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; skeletal findings; low serum alkaline phosphatase PIGK PIGK 1 2 Philippe Campeau
00289335 Fam3PatII1 Ind3 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France Maghreb - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; gastrointestinal anomalies including gastroesophageal reflux disease; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase PIGK PIGK 2 1 Philippe Campeau
00289336 Fam4PatII1 Ind4 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Egypt - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase PIGK PIGK 2 1 Philippe Campeau
00289337 Fam5PatIV1 Ind5 PubMed: Nguyen 2020, Journal: Mattioli 2020 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; no dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase PIGK PIGK 1 1 Philippe Campeau
00289338 Fam6PatII1 Ind6 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Nigeria Igbo tribe - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; movement disorder; epilepsy/seizures; dysmorphisms; no ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase PIGK PIGK 1 1 Philippe Campeau
00289339 Fam7PatII1 Ind7 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; -; ataxia; epilepsy/seizures; no dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; gastrointestinal anomalies including gastroesophageal reflux disease; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase PIGK PIGK 2 1 Philippe Campeau
00289340 Fam8PatV1 Ind8 PubMed: Nguyen 2020, Journal: Mattioli 2020 5-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; no dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase PIGK PIGK 1 1 Philippe Campeau
00289341 Fam9PatII1 Ind9A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected BROTHERS, unaffected heterozygous carrier parents M yes Pakistan - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; no hand/no foot anomalies; no skeletal findings PIGK PIGK 1 2 Philippe Campeau
00296268 Fam1PatII3 Ind1B PubMed: Nguyen 2020, Journal: Mattioli 2020 - M no India - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; -; movement disorder; no epilepsy/no seizures; dysmorphisms; no ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase PIGK PIGK 2 1 Johan den Dunnen
00296269 Fam2PatII2 Ind2B PubMed: Nguyen 2020, Journal: Mattioli 2020 - F yes Italy - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; skeletal findings; low serum alkaline phosphatase PIGK PIGK 1 1 Johan den Dunnen
00296270 Fam9PatII2 Ind9B PubMed: Nguyen 2020, Journal: Mattioli 2020 - M yes Pakistan - - - - - NEDHCAS hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings PIGK PIGK 1 1 Johan den Dunnen
00309913 - - - M yes India - - - - - NEDHCAS - PIGH PIGH 1 1 Anju Shukla
00452750 290869 - - F yes (Morocco) - - - - - NEDHCAS Triggered by infection, Episodic ataxia, Intellectual disability, Delayed fine motor development; parents consanguineous (cousin and cousin), son of the father's cousin with similar symptoms (also ataxia esp. in the context of infections) PIGK PIGK 1 1 Andreas Laner
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