Table 1: Phenotypic Features.
m: months; CE: Caucasian of European ancestry; IUGR: intrauterine growth restriction; Wt: weight; Facial dysmor: facial dysmorphism; ID: intellectual disability; Clin PN: clinical peripheral neuropathy; EMG/NC abnl: electromyography or nerve conduction abnormal; JC: joint contractures; Ex: extremity; Olf: olfactory bulb; Cycl: cyclic; arryth: arrythmia; OD: right eye; OS: left eye; BCVA: best corrected visual acuity; A: anisocoria; XT: exotropia; ONH: optic nerve hypoplasia; NFA: normal for age; R: reactive; G: glaucoma; Ec: ectropion; En: entropion; Ab: aberrant ocular movements; ON: optic nerve, b/l: bilateral; hypo:hypoplasia; TY: too young to test; ND: not done; N/A: not applicable; U: unknown/not available.
| Subject | I | II | III | IV | V | VI | VII | VIII | IX | X | XI | XII | XIII | XIV |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age Gender | 3m M | 18m M | 18m F | 2 M | 5 M | 8 F | 12 M | 14 M | 16 F | 17 F | 19 M | 19 M | 23 F | 25 M |
| Ancestry | Syrian Iraqi | CE | CE | Egypt | CE, African | CE | CE | CE | Asian | CE | CE, Asian | CE, Asian | CE | CE |
| Mutation Status | De novo | De novo | De novo | De novo | ND | De novo | De novo | ND | ND | De novo | De novo | De novo | De novo | De novo |
| Perinatal | ||||||||||||||
| IUGR | − | − | − | − | − | + | − | + | U | + | − | − | − | − |
| Prematurity | − | − | − | + | − | − | + | + | U | − | − | − | − | − |
| Fetal Distress | + | − | + | + | + | + | + | + | U | + | − | − | + | + |
| Birth Wt (kg) (%ile) | 2.9 (22) | 3.24 (45) | 3.865 (93) | 2.235 (54) | 3.288 (49) | 2.759 (9) | 3.32 (75) | 2.28 (21) | U | 2.52 (27) | 2.824 (90) | 2.7 (90) | 2.95 (20) | 4.25 (100) |
| Respiratory Distress | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Tracheostomy | + | + | + | − | + | − | + | + | − | + | − | − | + | − |
| Age Trach removed | Capage 5 | 4 | 10 | 8 | ||||||||||
| NG or G tube | + | + | + | + | + | + | + | − | + | − | − | − | + | + |
| Facial dysmor | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Growth (Z-scores for age at measurement) | ||||||||||||||
| Height | −1.65 | 0.85 | 2.96 | −0.52 | −4.42 | −1.5 | −1.55 | 0.42 | −5.69 | −2.99 | −1.52 | −2.75 | −0.47 | −2.3 |
| Weight | −2.05 | −0.34 | 0.39 | −1.08 | −2.08 | −1.5 | −1.76 | −0.48 | −7.76 | −3.04 | −2.81 | −1.33 | −2.32 | −1.41 |
| BMI | −1.4 | −1.06 | −1.74 | −2.05 | 1.84 | −1.05 | 0.69 | −1.59 | −5.06 | −3.48 | 0.4 | −2.38 | −0.26 | |
| Neurological | ||||||||||||||
| Microcephaly | + | − | − | + | − | + | + | − | + | + | − | − | + | − |
| ID | TY | TY | TY | TY | + | + | + | + | +++ | − | ++ | +++ | + | ++ |
| Seizures | − | − | + | − | − | − | − | − | + | + | − | − | − | − |
| Handedness | TY | TY | TY | L | L | L | L | L | L | L | L | L | L | Poor use b/l |
| Cranial nerves | ||||||||||||||
| I: Anosmia | TY | TY | TY | TY | − | − | + | − | + | + | + | + | + | − |
| III: CFEOM | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Manual lid elevation | TY | + | U | + | − | + | − | + | U | + | − | − | + | + |
| VII: facial weakness | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| VIII: hearing loss | − | − | − | − | − | − | + | − | − | − | − | − | + | − |
| X: vocal cord paralysis | + | + | + | + | + | + | + | + | U | + | − | − | + | − |
| XII: swallowing dysfunction | + | + | + | + | − | + | + | − | + | + | − | − | + | − |
| Neuromuscular | ||||||||||||||
| Clin PN Age detected | − | − | − | +1 | − | +8 | +4 | +1 | +<12 | +12 | +7 | +7 | +<17 | +<12 |
| EMG/NC abnl | ND | ND | ND | + | ND | ND | + | + | + | + | + | + | + | ND |
| JC: Upper Ex | + | + | + | + | + | − | + | + | − | − | + | + | + | + |
| JC: Lower Ex | + | + | + | − | − | − | + | + | + | + | + | − | + | + |
| Endocrine | ||||||||||||||
| Hypogon adotropic hypogonadism | + | + | − | + | + | + | ||||||||
| Olf dysgenesis | + | U | hypo | + | U | U | + | − | + | + | + | + | + | − |
| Microphallus | − | + | N/A | + | U | N/A | − | + | N/A | N/A | − | + | N/A | + |
| Cryptorchidism | − | − | N/A | − | + | N/A | − | + | N/A | N/A | − | + | N/A | + |
| Bone age | U | U | U | U | U | U | U | U | U | 7.5 at 12.2 | 12.5 at 14.6 | 12.5 at 14.6 | U | U |
| Osteopenia | U | − | − | U | U | U | U | U | + | + | + | + | + | U |
| GI | ||||||||||||||
| Cyclic vomiting | − | − | − | − | − | − | − | + | + | + | − | − | − | − |
| Cardiac | ||||||||||||||
| Pacemaker | − | − | − | − | − | − | − | − | − | − | − | − | − | + |
| Sinustachycardia | + | − | + | − | + | + | + | + | − | + | + | + | + | + |
| Ophthalmology | ||||||||||||||
| Pupils | A | miotic | R | Min R, A | U | U | R | Poor dilation | U | Min R, A | R | R | Min R, A | R |
| BCVA (OD, OS) | Too young | Too young | 20/130, 20/960 | NFA | U | U | 20/60 20/120 | NLP, 20/100 | U | 20/63 20/63 | 20/80 20/80 | 20/400 20/400 | 20/100 20/40 | 20/40 20/30 |
| Ptosis | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Ptosis Surgery | + | + | − | − | + | + | U | + | U | + | + | + | − | + |
| Ocular Alignment | XT | XT | XT | XT | XT | XT | XT | XT | XT | XT | XT | XT | XT | XT |
| Horizontal Movement | none | min | min | min | min | min | min | min | min | min | min | min | None OS Min OD | min |
| Subject | I | II | III | IV | V | VI | VII | VIII | IX | X | XI | XII | XIII | XIV |
| Vertical movement | none | min | min | none | min | min | none | min | none | none | min | min | none | min |
| Strabismus Surgery | − | − | − | − | + | − | + | + | + | + | + | + | − | + |
| Corneal exposure | + | − | + | + | + | + | + | + | + | − | − | + | ||
| Other | G, En, atrophiciris, no foveal reflex | ONH | En, absent corneal sensation, large ON | Cataract | Ec | En, Ab | Small ON | Cataract | ||||||