All individuals with variants in gene UNC80

22 entries on 1 page. Showing entries 1 - 22.
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00056046 - PubMed: Riviere 2012, Journal: Riviere 2012 2-generation family, 3 affected sibs (2F, M), unaffected non-carrier parents/sister; suspected germline mosaicism parent since 3 affected sibs share germline variant not detected in either parent (2 tissues) M no - European >16y - - - MPPH1 mild developmental delay particularly involving speech, later diagnosed with Asperger syndrome; 18m-third ventriculostomy for progressive ventriculomegaly (HP:0002119), no seizures; 12.5y MRI-brain striking megalencephaly (HP:0001355), bilateral perisylvian polymicrogyria (HP:0002126), borderline cerebellar tonsillar ectopia, moderately thick corpus callosum, no vascular malformations, no digital anomalies (no polydactyly (-HP:0010442), no syndactyly (-HP:0001159)) 2 3 Johan den Dunnen
00065256 26708753 F1_IV:5 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - M yes Saudi Arabia - >06y06m - - - IE Autosomal-Recessive Severe Infantile Encephalopathy; cachexia (HP:0004326), severe muscular hypotonia (HP:0001252), microcephaly (HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263) 1 1 Pieter Klap
00065257 26708753 F2_IV:1 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - M yes Saudi Arabia - >02y - - - IE Autosomal-Recessive Severe Infantile Encephalopathy; cachexia (HP:0004326), severe muscular hypotonia (HP:0001252), Microcephaly (HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263) 1 1 Pieter Klap
00065258 26708753 F2_IV:2 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - M yes Saudi Arabia - >01y - - - IE Autosomal-Recessive Severe Infantile Encephalopathy; Cachexia (HP:0004326), severe muscular hypotonia (HP:0001252), no microcephaly (-HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263) 1 1 Pieter Klap
00065259 26708753 F3_IV:4 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - F yes Saudi Arabia - >07y - - - IE Autosomal-Recessive Severe Infantile Encephalopathy; Cachexia (HP:0004326), progressive muscular hypotonia (HP:0001252), Microcephaly (HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263) 1 1 Pieter Klap
00065260 26708753 F4_V:1 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - F yes Egypt - >08y - - - IE Autosomal-Recessive Severe Infantile Encephalopathy; borderline cachexia (HP:0004326), progressive muscular hypotonia (HP:0001252), no microcephaly (-HP:0000252), single seizure (HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263) 1 1 Pieter Klap
00065262 26708753 F4_V:2 PubMed: Shamseldin HE 2016, Journal: Shamseldin HE 2016 - F yes Egypt - >04y - - - IE Autosomal-Recessive Severe Infantile Encephalopathy; borderline cachexia (HP:0004326), progressive muscular hypotonia (HP:0001252), no microcephaly (-HP:0000252), no seizure (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263) 1 1 Pieter Klap
00065264 26708751 F1_IV.1 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F yes Iraq - >04y - - clonazepam DD, ID Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), Poor eye contact (HP:0000817), minimal interest in surroundings (HP:0000723), Generalized tonic-clonic seizures (HP:0002069), severe constipation (HP:0002019), no tactile aversion, Hypersensitivity for stimuli, Obstructive sleep apnea (HP:0002870), Hypoplasia of the corpus callosum (HP:0002079), non-specific myopathic changes on muscle biopsy (HP:0003198),; birth 41w, Birth weight (percentile) 3,000 g (25th), OFC at birth (percentile) 33 cm (25th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) 1 1 Pieter Klap
00065267 26708751 F2_V.5 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F yes Morocco - >04y - - valproate, rivotril DD, ID Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), no small hands (-HP:0200055), no short foot (-HP:0001773), non-ambulatory (HP:0002540), Generalized tonic-clonic seizures (HP:0002069), severe constipation (HP:0002019), no tactile aversion, Hypersensitivity for stimuli, Sleep disturbance (HP:0002360),; birth 41w, Birth weight (percentile) 3,158 g (50th); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) 1 1 Pieter Klap
00065268 26708751 F3_II.1 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F no Norway - >15y - - valproate, lamotrigine, levetiracetam, vagal nerve stimulator DD, ID Muscular hypotonia (HP:0001252), no feeding difficulties (-HP:0011968), esotropia (HP:0000565), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), sociable, content,interested in surroundings, Generalized myoclonic seizures (HP:0002123), Atonic seizures (HP:0010819), Generalized tonic-clonic seizures (HP:0002069), atypical absences (HP:0011150), severe constipation (HP:0002019), tactile aversion, Hypersensitivity for stimuli, no sleep disturbance (HP:0002360), mild scoliosis (HP:0002650),; birth 38w, Birth weight (percentile) 2,960 g (25th), OFC at birth (percentile) 32 cm (10th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) 2 1 Pieter Klap
00065269 26708751 F3_II.2 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F no Norway - >10y - - valproate DD, ID Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), sociable, content, interested in surroundings, Atonic seizures (HP:0010819), atypical absences (HP:0011150), severe constipation (HP:0002019), tactile aversion, Hypersensitivity for stimuli, no sleep disturbance (-HP:0002360),; birth 40w, Birth weight (percentile) 3,070 g (25th), OFC at birth (percentile) 35 cm (75th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) 2 1 Pieter Klap
00081054 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - IHPRF2 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (OMIM:616801) 1 1 Daniel Trujillano
00101392 P5 - - F no China - >02y11m - - - ID HP:0000252; HP:0001999; HP:0001290; full-term pregnancy, birth weight 3,100 g (-0.4 SD); global developmental delay (HP:0001263), HP:0000252; HP:0001999; HP:0001290; global developmental delay (HP:0001263) 2 1 Wenjuan Qiu
00101393 P6 - - M no China - >09y - - - ID HP:0000252, HP:0001999, HP:0001250, HP:0001290; full-term pregnancy, birth weight 3350g (50th), length birth 50cm (50th); intellectual disability (HP:0001249) 2 1 Wenjuan Qiu
00288193 Pat3 PubMed: Lee 2019 - - - United States - - - - - ? developmental delay, hypotonia, apnea, myopathy, dysmorphic features 1 1 Johan den Dunnen
00292556 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00361579 15DG1948 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay 1 1 Johan den Dunnen
00361590 15DG0797 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, brain atrophy, FTT 1 1 Johan den Dunnen
00361598 15DG1972 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - ID not syndromic; global developmental delay 1 1 Johan den Dunnen
00374533 S-6581 PubMed: Ganapathy 2019 - - - India - - - - - ? Muscle weakness, hypotonia, developmental delay, abnormal jerky movements, poor visual fixation, hyperekplexia and poor head control. MRI showed diffused cerebral atrophy and white matter hyperintensity 1 1 Johan den Dunnen
00380804 ? PubMed: Nair 2018 - ? - Lebanon - - - - - IHPRF2 DD; ID; hypotonia, dysmorphic facial features; failure to thrive (Neurological) 1 1 LOVD
00464364 - - - - no Italy - - - - - IHPRF2 Growth abnormality (HP:0001507); Dysphagia (HP:0002015); Delayed speech and language development (HP:0000750); Hypotonia (HP:0001252); Global developmental delay (HP:0001263); Seizure (HP:0001250) 2 2 Mario Benvenuto
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