Phenotype #0000041575
| Individual ID |
00054908 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
MRXS-33 |
| Inheritance |
Familial, X-linked recessive |
| Phenotype details |
seizures (4 hours after birth), lactic acidosis.; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); prominent forehead (HP:0011220); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); thickened helices (large earlobe HP:0009748); long face (HP:0000276); high arched palate (high palate HP:0000218); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); hypertelorism (HP:0000316); sacral dimple (HP:0000960); hirsutism (HP:0001007); frequent dermatitis & eczema (eczema HP:0000964); toenail dysplasia (HP:0100797); hearing impairment (HP:0000365); chromic otitis media (HP:0000389); strabismus (HP:0000486); constipation (HP:0002019); gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); cerebellar atrophy (low cerebral white matter volume); hypoplasia of the corpus callosum (HP:0002079); seizures (HP:0001250); generalized hypotonia (HP:0001290); non-ambulatory; sleep-wake cycle disturbance (HP:0006979); osteopenia (HP:0000938); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); distal joint hypermobility (HP:0001382); kyphosis (HP:0002808); scoliosis (HP:0002650); short neck (HP:0000470); hydronephrosis; autistic behaviors (HP:0000729); intellectual disability (HP:0001249); not present -HP:0000490, -HP:0000496, -HP:0000579, -HP:0000739, -HP:0001057, -HP:0001251, -HP:0001257, -HP:0001264, -HP:0001511, -HP:0002119, -HP:0002141, -HP:0007018, -HP:0007375; birth 36w, caesarian section (HP:0011410), weight 4480 (1.85), height 52 (0.48), OFC 36.5 (1.02) |
| Age/Examination |
09y (9 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2015-12-07 12:50:28 +01:00 (CET) |
| Date last edited |
2020-05-12 12:33:06 +02:00 (CEST) |
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