All individuals with variants in gene PHIP

18 entries on 1 page. Showing entries 1 - 18.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00183044 23033978-Trio05 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00207311 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Increased body weight (HP:0004324); Impulsivity (HP:0100710); Mood swings (HP:0000720) 1 1 IMGAG
00207719 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Obesity (HP:0001513); Intellectual disability (HP:0001249) 1 1 IMGAG
00307705 UK10K_FINDWGA5411669 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307961 15DG2307 PubMed: Anazi 2017 familial F - - - - - - - ID see paper; ..., Intellectual disability, Neonatal hypotonia, Camptodactyly, Vesicoureteral reflux, Recurrent urinary tract infections, Abnormality of the ureter, Joint laxity 1 1 Johan den Dunnen
00363189 - - - F - - - - - - - ? Tall stature (HP:0000098); High forehead (HP:0000348); Telecanthus (HP:0000506); Thick eyebrow (HP:0000574); Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Memory impairment (HP:0002354) 1 1 IMGAG
00381101 183041 - - F - - - - - - - MRD Delayed speech and language development, Autistic behavior, Attention deficit hyperactivity disorder, Precocious puberty, Stereotypy, Global developmental delay 1 1 Andreas Laner
00390064 Pat11 PubMed: Kritioti 2021 - M - Cyprus Greece - - - - ? developmental delay, mild myopathy, right orchiopexy, horseshoe kidney, anger issues, shirt terminal phalanges, lactose intolerance, lipomastia, slanting palpebral fissures, brachydactyly, tapering fingers, mild retrognathia, increased laxity, coordination issues 1 1 Johan den Dunnen
00391753 097P - - F no Spain - - - - - ? - 1 1 Alejandro Brea-Fernández
00410584 Pat46 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - - - - ? see paper; ..., onset childhood, intellectual disability, psychiatric disorders, myopathy, axonal polyneuropathy, dysarthria, facial dysmorphism, no family history 1 1 Johan den Dunnen
00412205 199855 - - F no Germany - - - - - CHUJANS Delayed speech and language development, Broad nasal tip, High hypermetropia (+10 dt) 1 1 Andreas Laner
00416289 203839 - - M no Germany - - - - - CHUJANS Facial hypotonia, Oral motor hypotonia, Hypomimic face, Neurodevelopmental delay, Global developmental delay, Attention deficit hyperactivity disorder, Hypoplasia of the musculature, Exercise-induced muscle fatigue, Intellectual disability, profound, Delayed speech and language development, Gait disturbance, Intention tremor, Pica, Tapering pointed ends of distal finger phalanges, Clinodactyly, High palate, Hypodontia, Downslanted palpebral fissures, Single transverse palmar crease, Micrognathia, Hyporeflexia, Poor gross motor coordination 1 1 Andreas Laner
00434431 21672 - - M no Germany - - - - - CHUJANS Obesity, Micropenis, Abnormal testis morphology, Hypogonadism, Motor delay, Delayed speech and language development 1 1 Andreas Laner
00447880 282508 - - F no Germany - - - - - CHUJANS Delayed speech and language development, Speech articulation difficulties, Failure to thrive, Intellectual disability, borderline, Oromotor apraxia; Severe speech development disorder including oral motor and articulation, brother also affected (not analyzed), EEG (A.v. ESES) and MRI normal, IQ of 75 (KABC-II test), visual perception 63, PR < 1 (FEW-2), dystrophy; 1 1 Andreas Laner
00460973 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00461051 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00466863 - - - F - - (not applicable) white - - - - NDD HP:0012758, HP:0001513, HP:0001263 1 1 Marketa Wayhelova
00467554 - - - F - - (not applicable) white - - - - NDD HP:0001263, HP:0001999, HP:0030084, HP:0008386, HP:0001537, HP:0001655, HP:0025502 1 1 Marketa Wayhelova
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