Phenotype #0000325605
| Individual ID |
00414278 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NCFD |
| Phenotype details |
normal prenatal history; born hypotonic, pale, with no respiratory effort, needed intubation; 37w-birth, weight (1825 g), OFC (28.5 cm); height 120cm (18th); weight 27.9kg (72th); OFC 50.2cm (14th); hypotonia in infancy; no failure-to-thrive; developmental delay, 30m-walk, speech delay (can say sentences yet gibberish); severe developmental delay/ intellectual disability; not able to perform basic activities of daily living; no regression; no progressive course; no behavioural/psychiatric symptoms; no seizures; no hypotonia; brachycephaly; highly arched eyebrows with medial flaring, narrow palpebral fissures, low-set ears, low columella, small chin; hirsutism; short fingers; bilateral optic disc colobomas; astigmatism; suspected hearing loss; cerebellar vermian hypoplasia and frontal lobar underdevelopment along with hypoplasia of the anterior aspect of corpus callosum. Unspecific foci of white matter hyperintensities were also shown in the frontal lobes; 1d-normal echocardiography; no renal problems; no GIT; no respiratory problems; no feeding difficulties |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
07y08m (7 years, 8 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-07-24 15:50:06 +02:00 (CEST) |
| Date last edited |
2025-12-02 13:47:03 +01:00 (CET) |
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