Phenotype #0000337372
| Individual ID |
00448158 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., birth 33w Ceasarean section; bilateral moderate conductive hearing loss; ‘partial albinism’ - can’t find ophthalmology notes to corroborate this; developmental motor delay; 2y3m-walk; mild fine motor difficulties; developmental delay language; 16m-first words; speak in sentences, 12y-reported poor intelligibility, 8y-12y-full sentences; no autism; no ADHD; no sleep abnormalities; verbal and non-verbal IQ in 3-4 y range at 12y3m, attended special education school, now in college (life skills), sense of humor; special education; large PDA, small ASD (both closed); normal renal ultrasound; 2m-MRI brain delayed myelination; pyloric stenosis; 11y-benign suprarenal ganglioneuroma removed; mild hypotonia (central); no seizures; dysmorphic features; slightly cupped ears with up-lifted lobes; Long palpebral fissures; broad forehead; pointed chin; thin upper lip, smooth philtrum, micrognathia; blond hair, eyebrows and eyelashes, low posterior hairline, think and broad eyebrows medially; short broad neck; hypospadias; bilateral inguinal herniae, small umbilical hernia; short feet, deep set toe nails, mild ulnar deviation of left 3rd&4th fingers, persistent finger fetal pads bilaterally. 4th toes are proximally placed. Hallux valgus and thick soles, mild restriction of elbow extension bilaterally; crowded teeth, pointed upper incisor; giant cell hepatitis with cholestasis in early childhood, transfusion dependent anemia-resolved; recurrent infections with mild IgG and IgM deficiency (resolved when older, continue to follow with immunology) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
24y7m (24 years, 7 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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