KDM5A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 59.1% | 13/22 |
| Female | 40.9% | 9/22 |
| Indifferent | 0% | 0/22 |
| Unknown | 0% | 0/22 |
| General | ||
| Birth Length abnormalities | 13.6% | 3/22 |
| < P3 : Birth length less than 3rd percentile | 13.6% | 3/22 |
| Birth Weight abnormalities | 18.2% | 4/22 |
| < P3 : Small for gestational age | 13.6% | 3/22 |
| > P98 : Large for gestational age | 4.5% | 1/22 |
| Birth Head circumference abnormalities | 9.1% | 2/22 |
| < P3 : Primary microcephaly | 9.1% | 2/22 |
| Current Height abnormalities | 27.3% | 6/22 |
| > P98 : Tall stature | 13.6% | 3/22 |
| < P3 : Short stature | 13.6% | 3/22 |
| Current Weight abnormalities | 18.2% | 4/22 |
| < P3 : Decreased body weight | 9.1% | 2/22 |
| > P98 : Increased body weight | 9.1% | 2/22 |
| Current Head circumference abnormalities | 22.7% | 5/22 |
| > P98 : Macrocephaly | 9.1% | 2/22 |
| < P3 : Microcephaly | 13.6% | 3/22 |
| Neurology | ||
| Neurological abnormalities | 56.3% | 9/16 |
| Seizure | 25.0% | 4/16 |
| Hypotonia | 12.5% | 2/16 |
| Abnormal muscle tone | 6.3% | 1/16 |
| Abnormal pyramidal sign | 6.3% | 1/16 |
| Absent speech | 6.3% | 1/16 |
| Agitation | 6.3% | 1/16 |
| Clonus | 6.3% | 1/16 |
| Dystonia | 6.3% | 1/16 |
| EEG with multifocal slow activity | 6.3% | 1/16 |
| Focal aware seizure | 6.3% | 1/16 |
| Hyperactive deep tendon reflexes | 6.3% | 1/16 |
| Infantile spasms | 6.3% | 1/16 |
| Muscle weakness | 6.3% | 1/16 |
| Neurodevelopmental delay | 6.3% | 1/16 |
| Oromandibular dystonia | 6.3% | 1/16 |
| Spastic ataxia | 6.3% | 1/16 |
| Behavioral problems | 95.2% | 20/21 |
| Feeding difficulties | 52.4% | 11/21 |
| Sleep disturbance | 33.3% | 7/21 |
| Short attention span | 28.6% | 6/21 |
| obsolete Impaired social interactions | 23.8% | 5/21 |
| Self-injurious behavior | 19.0% | 4/21 |
| Attention deficit hyperactivity disorder | 14.3% | 3/21 |
| Hyperactivity | 14.3% | 3/21 |
| Bipolar affective disorder | 9.5% | 2/21 |
| Motor stereotypy | 9.5% | 2/21 |
| Abnormal eating behavior | 4.8% | 1/21 |
| Aggressive behavior | 4.8% | 1/21 |
| Anxiety | 4.8% | 1/21 |
| Compulsive behaviors | 4.8% | 1/21 |
| Depression | 4.8% | 1/21 |
| Inappropriate crying | 4.8% | 1/21 |
| Irritability | 4.8% | 1/21 |
| Low frustration tolerance | 4.8% | 1/21 |
| Mania | 4.8% | 1/21 |
| Nasogastric tube feeding in infancy | 4.8% | 1/21 |
| obsolete Toe walking | 4.8% | 1/21 |
| obsolete Mood swings | 4.8% | 1/21 |
| Obstructive sleep apnea | 4.8% | 1/21 |
| Recurrent hand flapping | 4.8% | 1/21 |
| Reduced social responsiveness | 4.8% | 1/21 |
| Repetitive compulsive behavior | 4.8% | 1/21 |
| Restlessness | 4.8% | 1/21 |
| Restrictive behavior | 4.8% | 1/21 |
| Brain abnormality | 45.0% | 9/20 |
| Abnormal corpus callosum morphology | 10.0% | 2/20 |
| Abnormal lateral ventricle morphology | 5.0% | 1/20 |
| Abnormal cerebral white matter morphology | 5.0% | 1/20 |
| Abnormal periventricular white matter morphology | 5.0% | 1/20 |
| Cavum septum pellucidum | 5.0% | 1/20 |
| Cerebral atrophy | 5.0% | 1/20 |
| Cerebellar atrophy | 5.0% | 1/20 |
| Dandy-Walker malformation | 5.0% | 1/20 |
| Diffuse white matter abnormalities | 5.0% | 1/20 |
| Dysplastic corpus callosum | 5.0% | 1/20 |
| Extra-axial cerebrospinal fluid accumulation | 5.0% | 1/20 |
| Frontal cortical atrophy | 5.0% | 1/20 |
| Hydrocephalus | 5.0% | 1/20 |
| Lateral ventricle dilatation | 5.0% | 1/20 |
| Parietal cortical atrophy | 5.0% | 1/20 |
| Periventricular leukomalacia | 5.0% | 1/20 |
| Posterior fossa cyst | 5.0% | 1/20 |
| Progressive macrocephaly | 5.0% | 1/20 |
| Small pituitary gland | 5.0% | 1/20 |
| Ventriculomegaly | 5.0% | 1/20 |
| Widened subarachnoid space | 5.0% | 1/20 |
| Facial abnormalities | ||
| Abnormality of the ear | 75.0% | 6/8 |
| Abnormality of the ear | 87.5% | 7/8 |
| Large earlobe | 37.5% | 3/8 |
| Low-set ears | 25.0% | 2/8 |
| Large fleshy ears | 12.5% | 1/8 |
| obsolete Low-set, posteriorly rotated ears | 12.5% | 1/8 |
| Prominent antitragus | 12.5% | 1/8 |
| Recurrent infections | 12.5% | 1/8 |
| Recurrent otitis media | 12.5% | 1/8 |
| Small earlobe | 12.5% | 1/8 |
| Abnormality of the eye | 63.6% | 7/11 |
| Strabismus | 27.3% | 3/11 |
| Deeply set eye | 18.2% | 2/11 |
| Marcus Gunn pupil | 9.1% | 1/11 |
| Monocular strabismus | 9.1% | 1/11 |
| Abnormality of the nose | 57.1% | 4/7 |
| Abnormality of the nose | 71.4% | 5/7 |
| Broad nasal tip | 28.6% | 2/7 |
| Depressed nasal bridge | 28.6% | 2/7 |
| Anteverted nares | 14.3% | 1/7 |
| Broad columella | 14.3% | 1/7 |
| Prominent nasal tip | 14.3% | 1/7 |
| Wide nasal base | 14.3% | 1/7 |
| Abnormality of the mouth | 76.9% | 10/13 |
| Micrognathia | 15.4% | 2/13 |
| Thin upper lip vermilion | 15.4% | 2/13 |
| Abnormal dental morphology | 7.7% | 1/13 |
| Asymmetry of the mandible | 7.7% | 1/13 |
| Bifid uvula | 7.7% | 1/13 |
| Cleft soft palate | 7.7% | 1/13 |
| Cleft palate | 7.7% | 1/13 |
| Downturned corners of mouth | 7.7% | 1/13 |
| Microdontia | 7.7% | 1/13 |
| Narrow mouth | 7.7% | 1/13 |
| Open mouth | 7.7% | 1/13 |
| Retrognathia | 7.7% | 1/13 |
| U-Shaped upper lip vermilion | 7.7% | 1/13 |
| Widely spaced teeth | 7.7% | 1/13 |
| Visual and hearing impairments | ||
| Abnormal hearing | 25.0% | 2/8 |
| Conductive hearing impairment | 12.5% | 1/8 |
| Hearing impairment | 12.5% | 1/8 |
| Abnormal vision | 75.0% | 6/8 |
| Astigmatism | 25.0% | 2/8 |
| Hypermetropia | 25.0% | 2/8 |
| Myopia | 25.0% | 2/8 |
| Amblyopia | 12.5% | 1/8 |
| Cerebral visual impairment | 12.5% | 1/8 |
| Heart | ||
| Abnormality of the heart | 50.0% | 9/18 |
| Heart murmur | 16.7% | 3/18 |
| Ventricular septal defect | 11.1% | 2/18 |
| Abnormal aortic arch morphology | 5.6% | 1/18 |
| Abnormal atrial septum morphology | 5.6% | 1/18 |
| Abnormal aortic valve morphology | 5.6% | 1/18 |
| Arrhythmia | 5.6% | 1/18 |
| Congenital malformation of the great arteries | 5.6% | 1/18 |
| Hypoplastic aortic arch | 5.6% | 1/18 |
| Peripheral pulmonary artery stenosis | 5.6% | 1/18 |
| Secundum atrial septal defect | 5.6% | 1/18 |
| Pulmonary | ||
| Abnormality of the lungs | 40.0% | 2/5 |
| Laryngomalacia | 20.0% | 1/5 |
| Pulmonary arterial hypertension | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 80.0% | 8/10 |
| Constipation | 40.0% | 4/10 |
| Abnormal insertion of umbilical cord | 10.0% | 1/10 |
| Bowel incontinence | 10.0% | 1/10 |
| Chronic constipation | 10.0% | 1/10 |
| Omphalocele | 10.0% | 1/10 |
| Vomiting | 10.0% | 1/10 |
| Urogenital | ||
| Abnormality of the urogenital system | 33.3% | 1/3 |
| Urinary incontinence | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 92.3% | 12/13 |
| Hypotonia | 53.8% | 7/13 |
| Hyperextensibility of the knee | 46.2% | 6/13 |
| Hyperextensibility at elbow | 38.5% | 5/13 |
| Hyperextensibility of the finger joints | 38.5% | 5/13 |
| Wrist hypermobility | 38.5% | 5/13 |
| Hyperextensible hand joints | 23.1% | 3/13 |
| Inability to walk | 23.1% | 3/13 |
| Genu valgum | 15.4% | 2/13 |
| Neonatal hypotonia | 15.4% | 2/13 |
| Pes planus | 15.4% | 2/13 |
| Abnormal posturing | 7.7% | 1/13 |
| Clinodactyly | 7.7% | 1/13 |
| Delayed gross motor development | 7.7% | 1/13 |
| Generalized hypotonia | 7.7% | 1/13 |
| Joint hypermobility | 7.7% | 1/13 |
| Muscle stiffness | 7.7% | 1/13 |
| obsolete Poor motor coordination | 7.7% | 1/13 |
| obsolete Joint laxity | 7.7% | 1/13 |
| obsolete Infantile axial hypotonia | 7.7% | 1/13 |
| Poor fine motor coordination | 7.7% | 1/13 |
| Sandal gap | 7.7% | 1/13 |
| Scoliosis | 7.7% | 1/13 |
| Short neck | 7.7% | 1/13 |
| Sydney crease | 7.7% | 1/13 |
| Tapered finger | 7.7% | 1/13 |
| 2-3 toe syndactyly | 7.7% | 1/13 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 80.0% | 4/5 |
| Abnormal fingernail morphology | 20.0% | 1/5 |
| Abnormal blistering of the skin | 20.0% | 1/5 |
| Dry skin | 20.0% | 1/5 |
| Fine hair | 20.0% | 1/5 |
| Hyperkeratosis | 20.0% | 1/5 |
| Nevus flammeus | 20.0% | 1/5 |
| Pallor | 20.0% | 1/5 |
| Skin rash | 20.0% | 1/5 |
| Soft skin | 20.0% | 1/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 100.0% | 3/3 |
| Recurrent upper respiratory tract infections | 66.7% | 2/3 |
| Bronchitis | 33.3% | 1/3 |
| Conjunctivitis | 33.3% | 1/3 |
| Otitis media | 33.3% | 1/3 |
| Recurrent infections | 33.3% | 1/3 |
| Recurrent pharyngitis | 33.3% | 1/3 |
| Neoplasia | ||
| Neoplasia | 100.0% | 1/1 |
| Cutaneous mastocytosis | 100.0% | 1/1 |