Disease #06713 (CHUJANS (Chung-Jansen syndrome), OMIM:617991)

Official abbreviation CHUJANS
Name Chung-Jansen syndrome
OMIM ID 617991
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene PHIP
Associated tissues -
Disease features large ears, thick eyebrows, synophrys, small nose; global developmental delay (HP:0001263); intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, cafe au lait spots, behavioral manifestations
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited 2023-01-03 20:43:23 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00412205 199855 - - F no Germany - - - - - CHUJANS Delayed speech and language development, Broad nasal tip, High hypermetropia (+10 dt) PHIP PHIP 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 PHIP, SPEN PHIP, SPEN 2 1 Andreas Laner
00434431 21672 - - M no Germany - - - - - CHUJANS Obesity, Micropenis, Abnormal testis morphology, Hypogonadism, Motor delay, Delayed speech and language development PHIP PHIP 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; PHIP PHIP 1 1 Andreas Laner
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.