Phenotype #0000235675
| Individual ID |
00310373 |
| Associated disease |
neuropathy, optic |
| Phenotype details |
Feeding difficulties (HP:0011968); Global developmental delay (HP:0001263); Infantile spasms (HP:0012469); Inguinal hernia (HP:0000023); Dolichocephaly (HP:0000268); Midface retrusion (HP:0011800); Deeply set eye (HP:0000490); Short palpebral fissure (HP:0012745); Protruding ear (HP:0000411); Abnormality of the helix (HP:0011039); Aplasia/Hypoplasia of the earlobes (HP:0009906); Skin tags (HP:0010609); Microretrognathia (HP:0000308); Macrodontia (HP:0001572); Absent speech (HP:0001344); Impaired social interactions (HP:0000735); Behavioral abnormality (HP:0000708); Weakness of facial musculature (HP:0030319); Muscular hypotonia (HP:0001252); Decreased muscle mass (HP:0003199); Apraxia (HP:0002186); Brisk reflexes (HP:0001348); Short stature (HP:0004322); Decreased body weight (HP:0004325); Delayed skeletal maturation (HP:0002750); Optic nerve hypoplasia( HP:0000609); EEG with generalized spikes (HP:0012000); Generalized-onset seizure (HP:0002197); Decreased CSF 5-hydroxyindolacetic acid (HP:0025455); Decreased CSF homovanillic acid (HP:0003785); Intellectual disability, severe (HP:0010864); Difficulty walking (HP:0002355); Gastrostomy tube feeding in infancy (HP:0011471); Optic atrophy (HP:0000648) |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
14y (14 years) |
| Age/Diagnosis |
- |
| Age/Onset |
00y00m01d |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Benjamin Billiet |
| Database submission license |
No license selected |
| Created by |
Benjamin Billiet |
| Date created |
2020-09-10 11:42:03 +02:00 (CEST) |
| Date last edited |
2021-05-05 16:34:12 +02:00 (CEST) |
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