Phenotype #0000337363
| Individual ID |
00448149 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., birth 39w Ceasarean section( elective, pre-eclampsia) LGA; conductive hearing loss (childhood); mild unilateral SNHL (adulthood); chronic serous otitis media (multiple pe tubes); high myopia; b/l retinal detachment; b/l complete absence sphincter pupillate; developmental motor delay; 2y-walk; fine motor difficulties ; developmental delay language; 2y-first words ; 3y-speak in sentences; no autism; ADHD; anger/ frustration, obsessive traits in childhood, challenging behavior (when older); sleep frequent waking, night terrors ; FSIQ 60 ; special education, secondary school ; Enlarged kidneys but then normal. Thickened bladder wall ; No; Hypogonadotropic hypogonadism; secondary osteopenia; no tumors; no parathyroid adenoma ; no sarcoma ; no uterine myoma ; hypotonia; seizures (generalized, complex partial seizures); EEG abnormal; dysmorphic features, coarse facial features; Prominant ears; left ear pits (posterior); dimples ear lobes; uplifted ear lobes; downslanting palpebral fissures; periorbital fullness; broad nasal tip; overhanging columella; bitemporal narrowing; long, grooved chin; smooth long philtrum, thin upper lip, high arched palate, thickened gums , crossbite; broad eyebrows (thickend medially and sparse laterally), fair and fine hair, hair whorl; hypospadias, unilateral cryptorchodism; right inguinal hernia, umbilical hernia; joint limitations elbows, knees, small joints hands, short 4th MT, overriding toes 4-5, spindle shaped fingers, small toe nails, thoracic scoliosis, platyspondyly and irregular end plates, Hyperlaxity DIP joints, deep-set hyperconvex toe nails, hallus valgus, large fleshy hands; supernumerary teeth, macroglossia (tongue reduction) ; soft skin, keratosis pilaris, hypotrichosis (HH), few melanocytic naevi, nevus flameus (forehead); excessive drooling (surgery for salivary gland >dry mouth), tonsillectomy and adenoidectomy; DEXA scan osteoporosis (Z -2.8) |
| Inheritance |
Familial, X-linked |
| Age/Examination |
34y9m (34 years, 9 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-02-21 16:36:37 +01:00 (CET) |
| Date last edited |
N/A |
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