Clinical Signs and Symptoms
ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal facial shape HP:0001999
- Ataxia HP:0001251
- Distal amyotrophy HP:0003693
- Exocrine pancreatic insufficiency HP:0001738
- Global developmental delay HP:0001263
- Intellectual disability, moderate HP:0002342
- Motor delay HP:0001270
- Sensorineural hearing impairment HP:0000407
Very frequent
- Abnormality of the foot HP:0001760
- Abnormality of the hand HP:0001155
- Abnormality of the midface HP:0000309
- Achilles tendon contracture HP:0001771
- Brachycephaly HP:0000248
- Cerebellar hemisphere hypoplasia HP:0100307
- Diabetes mellitus HP:0000819
- Distal muscle weakness HP:0002460
- Dysmetria HP:0001310
- EEG abnormality HP:0002353
- Exotropia HP:0000577
- Facial palsy HP:0010628
- Failure to thrive HP:0001508
- Long fingers HP:0100807
- Mild postnatal growth retardation HP:0001530
- Neonatal hypotonia HP:0001319
- Postnatal microcephaly HP:0005484
- Proximal placement of thumb HP:0009623
- Thin upper lip vermilion HP:0000219
Frequent
- Abnormal liver parenchyma morphology HP:0030146
- Abnormality of the hallux HP:0001844
- Aplasia/Hypoplasia of the pancreas HP:0100800
- Congenital hip dislocation HP:0001374
- Contractures involving the joints of the feet HP:0008366
- Decreased fetal movement HP:0001558
- Decreased motor nerve conduction velocity HP:0003431
- Decreased sensory nerve conduction velocity HP:0003448
- Delayed puberty HP:0000823
- Generalized myoclonic seizures HP:0002123
- Hepatomegaly HP:0002240
- Hyperechogenic pancreas HP:0006276
- Hypertelorism HP:0000316
- Hypothyroidism HP:0000821
- Hypoxemia HP:0012418
- Joint contracture of the hand HP:0009473
- Shawl scrotum HP:0000049
- Skeletal muscle fibrosis HP:0030951
- Talipes equinovalgus HP:0001772
- Ulnar deviation of the 2nd finger HP:0009464
- Ulnar deviation of the 3rd finger HP:0009463
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.