Phenotype #0000232892
| Individual ID |
00307050 |
| Associated disease |
MRXSBL;MRX60 |
| Phenotype details |
Uneventful pregnancy and delivery. Birth weight: 3650 g, birth length: 52 cm, birth head circumference: 34 cm. Neurodevelopmental delay (head control at 6 months, sitting at 10 months, walking unaided at 17 months, first sentences at 4 years) . At school age, poor educational achievement and hyperactive behavior, requiring treatment with methylphenidate. Moderate intellectual disability (full scale IQ 49 on WISC scale). At last follow-up (18.5 years of age) strabismus and mild motor dyspraxia, with no signs of ataxia or pyramidal deficit. Facial dysmorphisms (including long face with prominent forehead, hypothelorism, deep-set eyes, large ears, long and tubular nose, short philtrum, thin upper lip and prominent chin). Symmetrical enlargement of lateral ventricles, cerebellar hypoplasia (mainly affecting the vermis) and inferior vermian dysplasia on brain MRI, with no signs of neuroradiological progression. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, X-linked recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
18y (18 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Birth_Details |
- |
| Protein |
- |
| Owner name |
Sara Nuovo |
| Database submission license |
No license selected |
| Created by |
Sara Nuovo |
| Date created |
2020-07-28 19:40:07 +02:00 (CEST) |
| Date last edited |
2020-07-30 12:59:06 +02:00 (CEST) |
|
