PHF5A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 44.4% | 4/9 |
| Female | 55.6% | 5/9 |
| Indifferent | 0% | 0/9 |
| Unknown | 0% | 0/9 |
| General | ||
| Birth Length abnormalities | 22.2% | 2/9 |
| < P3 : Birth length less than 3rd percentile | 22.2% | 2/9 |
| Birth Weight abnormalities | 77.8% | 7/9 |
| < P3 : Small for gestational age | 77.8% | 7/9 |
| Birth Head circumference abnormalities | 11.1% | 1/9 |
| < P3 : Congenital microcephaly | 11.1% | 1/9 |
| Current Height abnormalities | 66.7% | 6/9 |
| < P3 : Short stature | 66.7% | 6/9 |
| Current Weight abnormalities | 22.2% | 2/9 |
| < P3 : Decreased body weight | 22.2% | 2/9 |
| Current Head circumference abnormalities | 33.3% | 3/9 |
| > P98 : Macrocephaly | 11.1% | 1/9 |
| < P3 : Microcephaly | 22.2% | 2/9 |
| Neurology | ||
| Neurological abnormalities | 55.6% | 5/9 |
| Muscular hypotonia | 44.4% | 4/9 |
| Febrile seizures | 11.1% | 1/9 |
| Memory impairment | 11.1% | 1/9 |
| Migraine | 11.1% | 1/9 |
| Nystagmus | 11.1% | 1/9 |
| Poor motor coordination | 11.1% | 1/9 |
| Seizures | 11.1% | 1/9 |
| Specific learning disability | 11.1% | 1/9 |
| Behavioral problems | 44.4% | 4/9 |
| Autistic behavior | 11.1% | 1/9 |
| Impaired social interactions | 11.1% | 1/9 |
| Short attention span | 11.1% | 1/9 |
| Sleep disturbance | 11.1% | 1/9 |
| Stereotypic behavior | 11.1% | 1/9 |
| Brain abnormality | 28.6% | 2/7 |
| CNS demyelination | 14.3% | 1/7 |
| Delayed myelination | 14.3% | 1/7 |
| Hypoplasia of the corpus callosum | 14.3% | 1/7 |
| Ventriculomegaly | 14.3% | 1/7 |
| Facial abnormalities | ||
| Abnormality of the ear | 66.7% | 6/9 |
| Preauricular skin tag | 55.6% | 5/9 |
| Low-set ears | 33.3% | 3/9 |
| Macrotia | 22.2% | 2/9 |
| Abnormality of the helix | 11.1% | 1/9 |
| Low-set, posteriorly rotated ears | 11.1% | 1/9 |
| Abnormality of the eye | 77.8% | 7/9 |
| Periorbital fullness | 44.4% | 4/9 |
| Deeply set eye | 33.3% | 3/9 |
| Downslanted palpebral fissures | 22.2% | 2/9 |
| Hypertelorism | 22.2% | 2/9 |
| Blepharophimosis | 11.1% | 1/9 |
| Abnormality of the nose | 55.6% | 5/9 |
| Broad nasal tip | 11.1% | 1/9 |
| Deviated nasal septum | 11.1% | 1/9 |
| Prominent nose | 11.1% | 1/9 |
| Wide nose | 11.1% | 1/9 |
| Wide nasal bridge | 11.1% | 1/9 |
| Abnormality of the mouth | 66.7% | 6/9 |
| Dental crowding | 22.2% | 2/9 |
| Retrognathia | 22.2% | 2/9 |
| Abnormality of the mandible | 11.1% | 1/9 |
| Bifid uvula | 11.1% | 1/9 |
| Dental malocclusion | 11.1% | 1/9 |
| Exaggerated cupid's bow | 11.1% | 1/9 |
| Misalignment of teeth | 11.1% | 1/9 |
| Submucous cleft soft palate | 11.1% | 1/9 |
| Thick upper lip vermilion | 11.1% | 1/9 |
| Thin upper lip vermilion | 11.1% | 1/9 |
| Wide mouth | 11.1% | 1/9 |
| Visual and hearing impairments | ||
| Abnormal hearing | 44.4% | 4/9 |
| Hearing impairment | 22.2% | 2/9 |
| Conductive hearing impairment | 11.1% | 1/9 |
| Severe sensorineural hearing impairment | 11.1% | 1/9 |
| Abnormal vision | 44.4% | 4/9 |
| Strabismus | 22.2% | 2/9 |
| Abnormality of refraction | 11.1% | 1/9 |
| Astigmatism | 11.1% | 1/9 |
| Heart | ||
| Abnormality of the heart | 33.3% | 3/9 |
| Atria septal defect | 22.2% | 2/9 |
| Abnormality of the aortic arch | 11.1% | 1/9 |
| Patent foramen ovale | 11.1% | 1/9 |
| Ventricular septal defect | 11.1% | 1/9 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 11.1% | 1/9 |
| Chronic constipation | 11.1% | 1/9 |
| Lactose intolerance | 11.1% | 1/9 |
| Urogenital | ||
| Abnormality of the urogenital system | 44.4% | 4/9 |
| Hypospadias | 33.3% | 3/9 |
| Aplasia/Hypoplasia of the testes | 11.1% | 1/9 |
| Azoospermia | 11.1% | 1/9 |
| Bilateral cryptorchidism | 11.1% | 1/9 |
| Chordee | 11.1% | 1/9 |
| Cryptorchidism | 11.1% | 1/9 |
| Hydronephrosis | 11.1% | 1/9 |
| Micropenis | 11.1% | 1/9 |
| Skeleton | ||
| Skeletal abnormalities | 77.8% | 7/9 |
| Arachnodactyly | 33.3% | 3/9 |
| Broad toe | 33.3% | 3/9 |
| Clinodactyly of the 5th finger | 11.1% | 1/9 |
| Congenital hip dislocation | 11.1% | 1/9 |
| Facial cleft | 11.1% | 1/9 |
| Joint hypermobility | 11.1% | 1/9 |
| Metatarsus adductus | 11.1% | 1/9 |
| Overlapping toe | 11.1% | 1/9 |
| Postaxial polydactyly | 11.1% | 1/9 |
| Sandal gap | 11.1% | 1/9 |
| Short distal phalanx of toe | 11.1% | 1/9 |
| Short fifth metatarsal | 11.1% | 1/9 |
| Short fourth metatarsal | 11.1% | 1/9 |
| Short neck | 11.1% | 1/9 |
| Talipes equinovarus | 11.1% | 1/9 |
| Tapered finger | 11.1% | 1/9 |
| Toe clinodactyly | 11.1% | 1/9 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 9/9 |
| Eczema | 33.3% | 3/9 |
| Sacral dimple | 33.3% | 3/9 |
| Nail dysplasia | 22.2% | 2/9 |
| Small nail | 22.2% | 2/9 |
| Abnormal bone ossification | 11.1% | 1/9 |
| Abnormality of the palmar creases | 11.1% | 1/9 |
| Abnormality of skin pigmentation | 11.1% | 1/9 |
| Arachnodactyly | 11.1% | 1/9 |
| Low anterior hairline | 11.1% | 1/9 |
| Low posterior hairline | 11.1% | 1/9 |
| Scrotal hyperpigmentation | 11.1% | 1/9 |
| Skin dimples | 11.1% | 1/9 |
| Sparse lateral eyebrow | 11.1% | 1/9 |
| Sparse hair | 11.1% | 1/9 |
| Synophrys | 11.1% | 1/9 |
| Thick eyebrow | 11.1% | 1/9 |
| Webbed neck | 11.1% | 1/9 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 33.3% | 3/9 |
| Adrenal hyperplasia | 22.2% | 2/9 |
| Hypothyroidism | 11.1% | 1/9 |
| Abnormality of the immune system | 44.4% | 4/9 |
| Recurrent respiratory infections | 22.2% | 2/9 |
| Chronic otitis media | 11.1% | 1/9 |
| Recurrent otitis media | 11.1% | 1/9 |
| Recurrent urinary tract infections | 11.1% | 1/9 |
| Recurrent infections | 11.1% | 1/9 |