ZFHX4

Graph and Chart

Patient Overview : 13

General

Frequency of all clinical findings

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