LHX2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 44.4% | 8/18 |
| Female | 44.4% | 8/18 |
| Indifferent | 0% | 0/18 |
| Unknown | 11.1% | 2/18 |
| General | ||
| Birth Length abnormalities | 5.6% | 1/18 |
| < P3 : Birth length less than 3rd percentile | 5.6% | 1/18 |
| Birth Weight abnormalities | 5.6% | 1/18 |
| < P3 : Small for gestational age | 5.6% | 1/18 |
| Birth Head circumference abnormalities | 11.1% | 2/18 |
| < P3 : Primary microcephaly | 11.1% | 2/18 |
| Current Height abnormalities | 16.7% | 3/18 |
| < P3 : Short stature | 16.7% | 3/18 |
| Current Weight abnormalities | 11.1% | 2/18 |
| > P98 : Increased body weight | 5.6% | 1/18 |
| < P3 : Decreased body weight | 5.6% | 1/18 |
| Current Head circumference abnormalities | 38.9% | 7/18 |
| > P98 : Macrocephaly | 5.6% | 1/18 |
| < P3 : Microcephaly | 33.3% | 6/18 |
| Neurology | ||
| Neurological abnormalities | 53.8% | 7/13 |
| Hypotonia | 23.1% | 3/13 |
| Apraxia | 7.7% | 1/13 |
| Axial hypotonia | 7.7% | 1/13 |
| Febrile seizure (within the age range of 3 months to 6 years) | 7.7% | 1/13 |
| Generalized non-motor (absence) seizure | 7.7% | 1/13 |
| Head titubation | 7.7% | 1/13 |
| Hydrocephalus | 7.7% | 1/13 |
| Hyperreflexia | 7.7% | 1/13 |
| Spastic diplegia | 7.7% | 1/13 |
| Tremor | 7.7% | 1/13 |
| Behavioral problems | 75.0% | 12/16 |
| Sleep disturbance | 31.3% | 5/16 |
| Attention deficit hyperactivity disorder | 25.0% | 4/16 |
| Autism | 25.0% | 4/16 |
| Atypical behavior | 18.8% | 3/16 |
| Aggressive behavior | 12.5% | 2/16 |
| Self-injurious behavior | 12.5% | 2/16 |
| Anxiety | 6.3% | 1/16 |
| Autistic behavior | 6.3% | 1/16 |
| Brain abnormality | 77.8% | 7/9 |
| Abnormal cerebral white matter morphology | 33.3% | 3/9 |
| Cavum septum pellucidum | 22.2% | 2/9 |
| Hypoplasia of the corpus callosum | 22.2% | 2/9 |
| Abnormal cerebral ventricle morphology | 11.1% | 1/9 |
| Abnormal cerebral morphology | 11.1% | 1/9 |
| Abnormal corpus callosum morphology | 11.1% | 1/9 |
| Cerebellar hypoplasia | 11.1% | 1/9 |
| Chiari type I malformation | 11.1% | 1/9 |
| Corpus callosum atrophy | 11.1% | 1/9 |
| Dysplastic corpus callosum | 11.1% | 1/9 |
| Hypoplasia of the brainstem | 11.1% | 1/9 |
| Periventricular heterotopia | 11.1% | 1/9 |
| Ventriculomegaly | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the ear | 54.5% | 6/11 |
| Bulbous nose | 9.1% | 1/11 |
| Low-set ears | 9.1% | 1/11 |
| Overfolded helix | 9.1% | 1/11 |
| Protruding ear | 9.1% | 1/11 |
| Thickened helices | 9.1% | 1/11 |
| Underfolded helix | 9.1% | 1/11 |
| Abnormality of the eye | 54.5% | 6/11 |
| Epicanthus | 18.2% | 2/11 |
| Short palpebral fissure | 18.2% | 2/11 |
| Abnormal eyelid morphology | 9.1% | 1/11 |
| Deeply set eye | 9.1% | 1/11 |
| Narrow palpebral fissure | 9.1% | 1/11 |
| Stellate iris | 9.1% | 1/11 |
| Upslanted palpebral fissure | 9.1% | 1/11 |
| Abnormality of the nose | 45.5% | 5/11 |
| Anteverted nares | 9.1% | 1/11 |
| Narrow nose | 9.1% | 1/11 |
| Prominent nose | 9.1% | 1/11 |
| Short nose | 9.1% | 1/11 |
| Wide nasal ridge | 9.1% | 1/11 |
| Abnormality of the mouth | 66.7% | 8/12 |
| Thin upper lip vermilion | 25.0% | 3/12 |
| Conical tooth | 8.3% | 1/12 |
| Delayed eruption of permanent teeth | 8.3% | 1/12 |
| Dental malocclusion | 8.3% | 1/12 |
| Exaggerated cupid's bow | 8.3% | 1/12 |
| Hypoplasia of the maxilla | 8.3% | 1/12 |
| Mandibular prognathia | 8.3% | 1/12 |
| Micrognathia | 8.3% | 1/12 |
| Microdontia | 8.3% | 1/12 |
| Persistence of primary teeth | 8.3% | 1/12 |
| Thin vermilion border | 8.3% | 1/12 |
| Visual and hearing impairments | ||
| Abnormal hearing | 7.7% | 1/13 |
| Conductive hearing impairment | 7.7% | 1/13 |
| Abnormal vision | 64.3% | 9/14 |
| Amblyopia | 21.4% | 3/14 |
| Esotropia | 14.3% | 2/14 |
| Hypermetropia | 14.3% | 2/14 |
| Myopia | 14.3% | 2/14 |
| Strabismus | 14.3% | 2/14 |
| Abnormal eye morphology | 7.1% | 1/14 |
| Abnormality of visual evoked potentials | 7.1% | 1/14 |
| Abnormality of vision | 7.1% | 1/14 |
| Cone/cone-rod dystrophy | 7.1% | 1/14 |
| Optic neuropathy | 7.1% | 1/14 |
| Retinal neoplasm | 7.1% | 1/14 |
| Scotoma | 7.1% | 1/14 |
| Heart | ||
| Abnormality of the heart | 23.1% | 3/13 |
| Aortic valve atresia | 15.4% | 2/13 |
| Hypoplastic left ventricle | 15.4% | 2/13 |
| Mitral atresia | 15.4% | 2/13 |
| Abnormal aortic morphology | 7.7% | 1/13 |
| Abnormal atrial septum morphology | 7.7% | 1/13 |
| Atrial septal defect | 7.7% | 1/13 |
| Right aortic arch with retroesophageal left subclavian artery | 7.7% | 1/13 |
| Vascular ring | 7.7% | 1/13 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 23.1% | 3/13 |
| Constipation | 15.4% | 2/13 |
| Feeding difficulties | 7.7% | 1/13 |
| Gastroesophageal reflux | 7.7% | 1/13 |
| Gastrointestinal dysmotility | 7.7% | 1/13 |
| Projectile vomiting | 7.7% | 1/13 |
| Urogenital | ||
| Abnormality of the urogenital system | 8.3% | 1/12 |
| Abnormal testis morphology | 8.3% | 1/12 |
| Skeleton | ||
| Skeletal abnormalities | 53.8% | 7/13 |
| Clinodactyly | 15.4% | 2/13 |
| Tapered finger | 15.4% | 2/13 |
| Broad hallux | 7.7% | 1/13 |
| Craniosynostosis | 7.7% | 1/13 |
| Delayed closure of the anterior fontanelle | 7.7% | 1/13 |
| Joint hypermobility | 7.7% | 1/13 |
| Pes planus | 7.7% | 1/13 |
| Short nail | 7.7% | 1/13 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 38.5% | 5/13 |
| Acne | 7.7% | 1/13 |
| Broad toe | 7.7% | 1/13 |
| Cafe-au-lait spot | 7.7% | 1/13 |
| Hypomelanotic macule | 7.7% | 1/13 |
| Numerous nevi | 7.7% | 1/13 |
| Prominent fingertip pads | 7.7% | 1/13 |
| Sandal gap | 7.7% | 1/13 |
| Short nail | 7.7% | 1/13 |
| Single transverse palmar crease | 7.7% | 1/13 |
| Skin rash | 7.7% | 1/13 |
| Synophrys | 7.7% | 1/13 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 30.8% | 4/13 |
| Recurrent otitis media | 15.4% | 2/13 |
| Celiac disease | 7.7% | 1/13 |
| Recurrent infections | 7.7% | 1/13 |
| Neoplasia | ||
| Neoplasia | 6.7% | 1/15 |
| Adenoma sebaceum | 6.7% | 1/15 |
| Astrocytoma | 6.7% | 1/15 |