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Table 1 Phenotype of index patients with IMNEPD

From: Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Ethnic background    Yazidian-Turkish Yazidian-Turkish Tunesian Saudi-Arabian Saudi-Arabian Saudi-Arabian Saudi-Arabian
Mutation    c.269_270delCT c.269_270delCT c.254A > C c.254A > C c.254A > C c.254A > C c.254A > C
Family    01 01 02 03 03 03 03
Pedigree ID (gender)    II.1 (♀) II.4 (♂) II.4 (♂) II.1 (♀) II.2 (♂) II.10 (♂) II.13 (♂))
Age at last assessment (years)   14 3/12 6 8/12 15 7 6/12 5 6/12 13 3
Category Feature HPO        
Growth
 Height Postnatal growth retardation (years at onset) 0001530 + (11.4) + (4) - - - - -
 Weight Failure to thrive (years at onset) 0001508 + (11.4) + (4) - + (1.8) + (2.2) - -
Head and Neck
 Head Postnatal microcephaly (OFC < P3; years at onset) 0005484 + (2.5) + (0.3) - - - - -
Brachycephaly 0000248 + + + - - - -
 Face Abnormality of the midface 0000309 + + (+) - - - -
Facial palsy 0010628 + + + + - - -
 Ears Sensorineural hearing impairment 0000399 + + + + + + +
 Eyes Hypertelorism 0000316 + + - - - - -
Exotropia 0000577 + + - + - - +
 Mouth Thin upper lip vermilion 0000219 + + - + + - -
Abdomen
 Liver Hepatomegaly 0002240 - + + - - - -
Abnormal liver parenchyma morphology (on ultrasound) 0030146 + + + - - - -
 Pancreas Exocrine pancreatic insufficiency 0001738 + + + NA NA + +
Hyperechogenic pancreas 0006276 + - + - - - -
  Pancreatic atrophy (on MRI) 0100800 - - + - - - -
Genitourinary
 External genitalia Shawl scrotum 0000049 - + NA NA - - -
Skeletal
 Pelvis Congenital hip dislocation 0001374 + + - - - - -
 Hands Proximal placement of thumb 0009623 + + + + + - -
Long fingers 0100807 + + + + + - -
Ulnar deviation of the 2nd and 3rd finger 0009464,0009463 + - - - - - -
 Feet Abnormality of the hallux 0001844 + - - - - - -
Talipes equinovalgus, incipient 0001772 + - + - - - -
Achilles tendon contracture 0001771 + - - + + + -
Neurologic
 Central nervous system Neonatal hypotonia 0001319 + + + - - - -
Motor delay 0001270 + + + + + + +
Distal muscle weakness 0002460 + + + + + - -
Intellectual disability, moderate (IQ 39–70) 0002342 + (48) + (39) NA + (65–70) + (55–65) + (57) +
Dysmetria 0001310 +   NA + + - -
Ataxia 0001251 + + + + + + -
Cerebellar hypoplasia, progressive 0100307 + + - - + - -
EEG abnormality: alpha-beta-waves even in sleep 0002353 + + - NA NA NA NA
 Peripheral nervous system Demyelinating sensorimotor neuropathy 0003431,0003448 + + + NA NA NA NA
 Muscle Skeletal muscle fibrosis (on ultrasound) - + + NA NA NA NA NA
Endocrine features
  Hypothyroidism 0000821 + + - - - - -
  Diabetes mellitus 0000819 (+) (+) + - - - -
Prenatal manifestations
 Movement Decreased fetal movement 0001558 + - - - - - -
  1. Abbreviations: NA not available, + present, - not present, (+) present, mild