ZFHX4
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 46.2% | 6/13 |
| Female | 53.8% | 7/13 |
| Indifferent | 0% | 0/13 |
| Unknown | 0% | 0/13 |
| General | ||
| Birth Length abnormalities | 0% | 0/13 |
| Birth Weight abnormalities | 7.7% | 1/13 |
| < P3 : Small for gestational age | 7.7% | 1/13 |
| Birth Head circumference abnormalities | 0% | 0/13 |
| Current Height abnormalities | 0% | 0/13 |
| Current Weight abnormalities | 0% | 0/13 |
| Current Head circumference abnormalities | 0% | 0/13 |
| Neurology | ||
| Neurological abnormalities | 84.6% | 11/13 |
| Muscular hypotonia | 61.5% | 8/13 |
| Limb tremor | 15.4% | 2/13 |
| Limb dysmetria | 7.7% | 1/13 |
| Postural instability | 7.7% | 1/13 |
| Tremor | 7.7% | 1/13 |
| Behavioral problems | 33.3% | 4/12 |
| Behavioral abnormality | 16.7% | 2/12 |
| Autism | 8.3% | 1/12 |
| Overfriendliness | 8.3% | 1/12 |
| Brain abnormality | 66.7% | 6/9 |
| Hypoplasia of the corpus callosum | 44.4% | 4/9 |
| Abnormal cortical gyration | 22.2% | 2/9 |
| Cerebral hypomyelination | 22.2% | 2/9 |
| Abnormality of the cerebral white matter | 11.1% | 1/9 |
| Asymmetric ventricles | 11.1% | 1/9 |
| Widened cerebral subarachnoid space | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 13/13 |
| Low-set ears | 76.9% | 10/13 |
| Attached earlobe | 23.1% | 3/13 |
| Protruding ear | 23.1% | 3/13 |
| Anterior creases of earlobe | 7.7% | 1/13 |
| Abnormality of the eye | 92.3% | 12/13 |
| Ptosis | 76.9% | 10/13 |
| Epicanthus | 53.8% | 7/13 |
| Short palpebral fissure | 53.8% | 7/13 |
| Downslanted palpebral fissures | 30.8% | 4/13 |
| Microphthalmia | 23.1% | 3/13 |
| Sclerocornea | 23.1% | 3/13 |
| Hypertelorism | 15.4% | 2/13 |
| Peters anomaly | 15.4% | 2/13 |
| Corneal opacity | 7.7% | 1/13 |
| Pigmentary retinopathy | 7.7% | 1/13 |
| Upslanted palpebral fissure | 7.7% | 1/13 |
| Abnormality of the nose | 90.9% | 10/11 |
| Underdeveloped nasal alae | 63.6% | 7/11 |
| Wide nasal bridge | 45.5% | 5/11 |
| Broad nasal tip | 27.3% | 3/11 |
| Concave nasal ridge | 27.3% | 3/11 |
| Narrow nasal base | 27.3% | 3/11 |
| Absent nasal cartilage | 9.1% | 1/11 |
| Anteverted nares | 9.1% | 1/11 |
| Deviated nasal septum | 9.1% | 1/11 |
| Hyposmia | 9.1% | 1/11 |
| Wide nasal base | 9.1% | 1/11 |
| Abnormality of the mouth | 100.0% | 13/13 |
| Exaggerated cupid's bow | 92.3% | 12/13 |
| Downturned corners of mouth | 53.8% | 7/13 |
| Micrognathia | 53.8% | 7/13 |
| Cleft soft palate | 23.1% | 3/13 |
| Everted upper lip vermilion | 23.1% | 3/13 |
| High palate | 23.1% | 3/13 |
| Thin upper lip vermilion | 15.4% | 2/13 |
| Abnormality of the teeth | 7.7% | 1/13 |
| Cleft palate | 7.7% | 1/13 |
| Malar flattening | 7.7% | 1/13 |
| Persistence of primary teeth | 7.7% | 1/13 |
| Tented upper lip vermilion | 7.7% | 1/13 |
| Thin vermilion border | 7.7% | 1/13 |
| Triangular-shaped open mouth | 7.7% | 1/13 |
| Visual and hearing impairments | ||
| Abnormal hearing | 46.2% | 6/13 |
| Hearing impairment | 15.4% | 2/13 |
| Sensorineural hearing impairment | 15.4% | 2/13 |
| Hyperacusis | 7.7% | 1/13 |
| Mixed hearing impairment | 7.7% | 1/13 |
| Abnormal vision | 90.9% | 10/11 |
| Myopia | 36.4% | 4/11 |
| Strabismus | 36.4% | 4/11 |
| Astigmatism | 18.2% | 2/11 |
| Cataract | 9.1% | 1/11 |
| Duane anomaly | 9.1% | 1/11 |
| Glaucoma | 9.1% | 1/11 |
| Nystagmus | 9.1% | 1/11 |
| Sclerocornea | 9.1% | 1/11 |
| Visual impairment | 9.1% | 1/11 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 7.7% | 1/13 |
| Umbilical hernia | 7.7% | 1/13 |
| Urogenital | ||
| Abnormality of the urogenital system | 30.8% | 4/13 |
| Cryptorchidism | 15.4% | 2/13 |
| Bilateral cryptorchidism | 7.7% | 1/13 |
| Enlarged kidneys | 7.7% | 1/13 |
| Hydrocele testis | 7.7% | 1/13 |
| Micropenis | 7.7% | 1/13 |
| Ventral shortening of foreskin | 7.7% | 1/13 |
| Skeleton | ||
| Skeletal abnormalities | 46.2% | 6/13 |
| Broad hallux | 23.1% | 3/13 |
| Short 2nd metacarpal | 23.1% | 3/13 |
| Hallux valgus | 15.4% | 2/13 |
| Brachydactyly syndrome | 7.7% | 1/13 |
| Broad first metatarsal | 7.7% | 1/13 |
| Curved toe phalanx | 7.7% | 1/13 |
| Large fontanelles | 7.7% | 1/13 |
| Limitation of knee mobility | 7.7% | 1/13 |
| Long toe | 7.7% | 1/13 |
| Pes planus | 7.7% | 1/13 |
| Short foot | 7.7% | 1/13 |
| Slender long bone | 7.7% | 1/13 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 46.2% | 6/13 |
| 3-4 finger syndactyly | 15.4% | 2/13 |
| Abnormality of the palmar creases | 7.7% | 1/13 |
| Eczema | 7.7% | 1/13 |
| Sacral dimple | 7.7% | 1/13 |
| Single transverse palmar crease | 7.7% | 1/13 |
| Thickened nuchal skin fold | 7.7% | 1/13 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 7.7% | 1/13 |
| Hypothyroidism | 7.7% | 1/13 |
| Abnormality of the metabolic system | 7.7% | 1/13 |
| Recurrent hypoglycemia | 7.7% | 1/13 |