Table 1 Phenotype of index patients with 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 | + | - | - | - | - | - | - |