| Gender |
|
|
| Male |
60.7% |
17/28 |
| Female |
39.3% |
11/28 |
| Gene specific questions |
|
|
| Feeding difficulties |
68.8% |
11/16 |
| Constipation |
6.3% |
1/16 |
| General |
|
|
| Birth Length abnormalities |
11.1% |
3/27 |
| < P3 : Birth length less than 3rd percentile |
11.1% |
3/27 |
| Birth Weight abnormalities |
17.9% |
5/28 |
| < P3 : Small for gestational age |
17.9% |
5/28 |
| Birth Head circumference abnormalities |
0% |
0/27 |
| Current Height abnormalities |
46.4% |
13/28 |
| < P3 : Short stature |
46.4% |
13/28 |
| Current Weight abnormalities |
28.6% |
8/28 |
| > P98 : Increased body weight |
3.6% |
1/28 |
| < P3 : Decreased body weight |
25.0% |
7/28 |
| Current Head circumference abnormalities |
10.7% |
3/28 |
| > P98 : Macrocephaly |
3.6% |
1/28 |
| < P3 : Microcephaly |
7.1% |
2/28 |
| Neurology |
|
|
| Neurological abnormalities |
65.0% |
13/20 |
| Generalized hypotonia |
45.0% |
9/20 |
| Poor fine motor coordination |
10.0% |
2/20 |
| Absence seizures |
5.0% |
1/20 |
| Gait imbalance |
5.0% |
1/20 |
| Generalized tonic-clonic seizures |
5.0% |
1/20 |
| Generalized neonatal hypotonia |
5.0% |
1/20 |
| Impaired pain sensation |
5.0% |
1/20 |
| Behavioral problems |
88.0% |
22/25 |
| Short attention span |
36.0% |
9/25 |
| Autistic behavior |
28.0% |
7/25 |
| Anxiety |
20.0% |
5/25 |
| Attention deficit hyperactivity disorder |
20.0% |
5/25 |
| Aggressive behavior |
12.0% |
3/25 |
| Hyperactivity |
12.0% |
3/25 |
| Impulsivity |
12.0% |
3/25 |
| Autism |
8.0% |
2/25 |
| Rigidity |
8.0% |
2/25 |
| Sleep disturbance |
8.0% |
2/25 |
| Abnormal fear/anxiety-related behavior |
4.0% |
1/25 |
| Agitation |
4.0% |
1/25 |
| Low frustration tolerance |
4.0% |
1/25 |
| Brain abnormality |
46.7% |
7/15 |
| Abnormality of the periventricular white matter |
13.3% |
2/15 |
| Ventriculomegaly |
13.3% |
2/15 |
| Abnormality of the corpus callosum |
6.7% |
1/15 |
| Arachnoid cyst |
6.7% |
1/15 |
| Cerebellar vermis hypoplasia |
6.7% |
1/15 |
| Cerebellar hypoplasia |
6.7% |
1/15 |
| Dandy-Walker malformation |
6.7% |
1/15 |
| Delayed myelination |
6.7% |
1/15 |
| Dysplastic corpus callosum |
6.7% |
1/15 |
| Enlarged cisterna magna |
6.7% |
1/15 |
| Hypoplasia of the corpus callosum |
6.7% |
1/15 |
| Increased intracranial pressure |
6.7% |
1/15 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
77.3% |
17/22 |
| Low-set ears |
22.7% |
5/22 |
| Low-set, posteriorly rotated ears |
18.2% |
4/22 |
| Posteriorly rotated ears |
13.6% |
3/22 |
| Uplifted earlobe |
9.1% |
2/22 |
| Attached earlobe |
4.5% |
1/22 |
| Cupped ear |
4.5% |
1/22 |
| Narrow internal auditory canal |
4.5% |
1/22 |
| Protruding ear |
4.5% |
1/22 |
| Squared superior portion of helix |
4.5% |
1/22 |
| Abnormality of the eye |
73.7% |
14/19 |
| Downslanted palpebral fissures |
21.1% |
4/19 |
| Ptosis |
21.1% |
4/19 |
| Thick eyebrow |
15.8% |
3/19 |
| Aplasia/Hypoplasia of the eyebrow |
10.5% |
2/19 |
| Epicanthus |
10.5% |
2/19 |
| Hypertelorism |
10.5% |
2/19 |
| Long eyelashes |
10.5% |
2/19 |
| Abnormality of the eyelid |
5.3% |
1/19 |
| Abnormal eye morphology |
5.3% |
1/19 |
| Abnormality of the eyebrow |
5.3% |
1/19 |
| Abnormality of the frontal hairline |
5.3% |
1/19 |
| Long philtrum |
5.3% |
1/19 |
| Low anterior hairline |
5.3% |
1/19 |
| Periorbital fullness |
5.3% |
1/19 |
| Small palpebral fissure |
5.3% |
1/19 |
| Sparse eyebrow |
5.3% |
1/19 |
| Strabismus |
5.3% |
1/19 |
| Telecanthus |
5.3% |
1/19 |
| Thick hair |
5.3% |
1/19 |
| Abnormality of the nose |
75.0% |
15/20 |
| Short nose |
30.0% |
6/20 |
| Anteverted nares |
20.0% |
4/20 |
| Broad nasal tip |
20.0% |
4/20 |
| Depressed nasal bridge |
20.0% |
4/20 |
| Thick nasal alae |
20.0% |
4/20 |
| Wide nose |
20.0% |
4/20 |
| Abnormality of the nasal alae |
10.0% |
2/20 |
| Abnormality of the philtrum |
10.0% |
2/20 |
| Wide nasal bridge |
10.0% |
2/20 |
| Abnormality of the columella |
5.0% |
1/20 |
| Broad philtrum |
5.0% |
1/20 |
| Long philtrum |
5.0% |
1/20 |
| Low hanging columella |
5.0% |
1/20 |
| Narrow nasal bridge |
5.0% |
1/20 |
| Prominent nasolabial fold |
5.0% |
1/20 |
| Prominent nasal bridge |
5.0% |
1/20 |
| Prominent nasal tip |
5.0% |
1/20 |
| Prominent nose |
5.0% |
1/20 |
| Wide nasal base |
5.0% |
1/20 |
| Abnormality of the mouth |
65.2% |
15/23 |
| Thick lower lip vermilion |
26.1% |
6/23 |
| Thin upper lip vermilion |
21.7% |
5/23 |
| Wide mouth |
21.7% |
5/23 |
| Long philtrum |
13.0% |
3/23 |
| Thick upper lip vermilion |
13.0% |
3/23 |
| High palate |
8.7% |
2/23 |
| Retrognathia |
8.7% |
2/23 |
| Abnormality of the philtrum |
4.3% |
1/23 |
| Downturned corners of mouth |
4.3% |
1/23 |
| Exaggerated cupid's bow |
4.3% |
1/23 |
| Gingival overgrowth |
4.3% |
1/23 |
| High, narrow palate |
4.3% |
1/23 |
| Open mouth |
4.3% |
1/23 |
| Thin lower lip vermilion |
4.3% |
1/23 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
15.8% |
3/19 |
| Glue ear |
15.8% |
3/19 |
| Abnormal vision |
63.6% |
14/22 |
| Myopia |
22.7% |
5/22 |
| Strabismus |
22.7% |
5/22 |
| Hypermetropia |
18.2% |
4/22 |
| Abnormal iris pigmentation |
4.5% |
1/22 |
| Alternating esotropia |
4.5% |
1/22 |
| Astigmatism |
4.5% |
1/22 |
| Duane anomaly |
4.5% |
1/22 |
| Hyperopic astigmatism |
4.5% |
1/22 |
| Mild |
4.5% |
1/22 |
| Nystagmus |
4.5% |
1/22 |
| Oculomotor apraxia |
4.5% |
1/22 |
| Photophobia |
4.5% |
1/22 |
| Ptosis |
4.5% |
1/22 |
| Stellate iris |
4.5% |
1/22 |
| Heart |
|
|
| Abnormality of the heart |
21.1% |
4/19 |
| Abnormal coronary artery course |
5.3% |
1/19 |
| Abnormality of the cardiac septa |
5.3% |
1/19 |
| Increased nuchal translucency |
5.3% |
1/19 |
| Patent ductus arteriosus |
5.3% |
1/19 |
| Patent foramen ovale |
5.3% |
1/19 |
| Pulmonary |
|
|
| Abnormality of the lungs |
23.5% |
4/17 |
| Recurrent respiratory infections |
11.8% |
2/17 |
| Abnormality of the tracheobronchial system |
5.9% |
1/17 |
| Neonatal respiratory distress |
5.9% |
1/17 |
| Recurrent bronchitis |
5.9% |
1/17 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
76.2% |
16/21 |
| Constipation |
38.1% |
8/21 |
| Feeding difficulties in infancy |
23.8% |
5/21 |
| Feeding difficulties |
14.3% |
3/21 |
| Gastroesophageal reflux |
14.3% |
3/21 |
| Nasogastric tube feeding in infancy |
9.5% |
2/21 |
| Abnormality of the ileum |
4.8% |
1/21 |
| Hepatomegaly |
4.8% |
1/21 |
| Ileal atresia |
4.8% |
1/21 |
| Inguinal hernia |
4.8% |
1/21 |
| Obesity |
4.8% |
1/21 |
| Poor suck |
4.8% |
1/21 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
22.2% |
4/18 |
| Abnormal renal morphology |
5.6% |
1/18 |
| Hydrocele testis |
5.6% |
1/18 |
| Hypospadias |
5.6% |
1/18 |
| Testicular torsion |
5.6% |
1/18 |
| Skeleton |
|
|
| Skeletal abnormalities |
81.5% |
22/27 |
| Short stature |
22.2% |
6/27 |
| Plagiocephaly |
14.8% |
4/27 |
| Clinodactyly of the 5th finger |
11.1% |
3/27 |
| Joint laxity |
11.1% |
3/27 |
| Pectus excavatum |
11.1% |
3/27 |
| Pectus carinatum |
11.1% |
3/27 |
| Wormian bones |
11.1% |
3/27 |
| Delayed eruption of teeth |
7.4% |
2/27 |
| Dental crowding |
7.4% |
2/27 |
| Hip dysplasia |
7.4% |
2/27 |
| Irregular dentition |
7.4% |
2/27 |
| Lumbar hyperlordosis |
7.4% |
2/27 |
| Muscle weakness |
7.4% |
2/27 |
| Pes planus |
7.4% |
2/27 |
| Short distal phalanx of the 5th finger |
7.4% |
2/27 |
| Short 5th finger |
7.4% |
2/27 |
| Short finger |
7.4% |
2/27 |
| Tapered finger |
7.4% |
2/27 |
| Abnormality of the foot |
3.7% |
1/27 |
| Abnormality of the thorax |
3.7% |
1/27 |
| Abnormality of the incisor |
3.7% |
1/27 |
| Arachnodactyly |
3.7% |
1/27 |
| Broad hallux |
3.7% |
1/27 |
| Clinodactyly |
3.7% |
1/27 |
| Clinodactyly of the 5th toe |
3.7% |
1/27 |
| Clubbing |
3.7% |
1/27 |
| Crowded maxillary incisors |
3.7% |
1/27 |
| Delayed ossification of carpal bones |
3.7% |
1/27 |
| Delayed eruption of permanent teeth |
3.7% |
1/27 |
| Delayed eruption of primary teeth |
3.7% |
1/27 |
| Developmental regression |
3.7% |
1/27 |
| Dysharmonic delayed bone age |
3.7% |
1/27 |
| Frontal bossing |
3.7% |
1/27 |
| Growth delay |
3.7% |
1/27 |
| Hypoplastic fifth toenail |
3.7% |
1/27 |
| Hypoplastic fifth fingernail |
3.7% |
1/27 |
| Inguinal hernia |
3.7% |
1/27 |
| Kyphosis |
3.7% |
1/27 |
| Kyphoscoliosis |
3.7% |
1/27 |
| Long fingers |
3.7% |
1/27 |
| Macrodontia of permanent maxillary central incisor |
3.7% |
1/27 |
| Marked delay in bone age |
3.7% |
1/27 |
| Pes cavus |
3.7% |
1/27 |
| Short toe |
3.7% |
1/27 |
| Short humerus |
3.7% |
1/27 |
| Short foot |
3.7% |
1/27 |
| Short 5th toe |
3.7% |
1/27 |
| Short femur |
3.7% |
1/27 |
| Short middle phalanx of the 5th finger |
3.7% |
1/27 |
| Small hand |
3.7% |
1/27 |
| Small, conical teeth |
3.7% |
1/27 |
| Talipes equinovarus |
3.7% |
1/27 |
| Thoracic kyphosis |
3.7% |
1/27 |
| Umbilical hernia |
3.7% |
1/27 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
87.5% |
21/24 |
| Hypoplastic toenails |
25.0% |
6/24 |
| Eczema |
16.7% |
4/24 |
| Hypoplastic fifth toenail |
16.7% |
4/24 |
| Small nail |
16.7% |
4/24 |
| Sparse scalp hair |
16.7% |
4/24 |
| Fine hair |
12.5% |
3/24 |
| High anterior hairline |
8.3% |
2/24 |
| Hyperpigmentation of the skin |
8.3% |
2/24 |
| Hypopigmented skin patches |
8.3% |
2/24 |
| Joint laxity |
8.3% |
2/24 |
| Abnormality of hair texture |
4.2% |
1/24 |
| Abnormality of skin pigmentation |
4.2% |
1/24 |
| Absent fifth toenail |
4.2% |
1/24 |
| Atopic dermatitis |
4.2% |
1/24 |
| Dry skin |
4.2% |
1/24 |
| Fragile skin |
4.2% |
1/24 |
| Hemangioma |
4.2% |
1/24 |
| Hyperhidrosis |
4.2% |
1/24 |
| Hypoplastic fifth fingernail |
4.2% |
1/24 |
| Hypoplastic fingernail |
4.2% |
1/24 |
| Low anterior hairline |
4.2% |
1/24 |
| Numerous nevi |
4.2% |
1/24 |
| Pes planus |
4.2% |
1/24 |
| Prominent fingertip pads |
4.2% |
1/24 |
| Seborrheic dermatitis |
4.2% |
1/24 |
| Single transverse palmar crease |
4.2% |
1/24 |
| Slow-growing nails |
4.2% |
1/24 |
| Slow-growing hair |
4.2% |
1/24 |
| Vitiligo |
4.2% |
1/24 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
6.7% |
1/15 |
| Growth hormone deficiency |
6.7% |
1/15 |
| Abnormality of the metabolic system |
11.1% |
2/18 |
| Abnormal lactate dehydrogenase activity |
5.6% |
1/18 |
| Elevated serum creatinine |
5.6% |
1/18 |
| Abnormality of the immune system |
25.0% |
4/16 |
| Recurrent infections in infancy and early childhood |
12.5% |
2/16 |
| Allergic rhinitis |
6.3% |
1/16 |
| Allergy |
6.3% |
1/16 |
| Recurrent respiratory infections |
6.3% |
1/16 |
| Recurrent otitis media |
6.3% |
1/16 |
| Transient hypogammaglobulinemia of infancy |
6.3% |
1/16 |
| Neoplasia |
|
|
| Neoplasia |
3.6% |
1/28 |
| Breast carcinoma |
3.6% |
1/28 |