Disease #00826 (XLID93;MRX93 (intellectual developmental disorder, X-linked type 93 (MRX93)), OMIM:300659)
| Official abbreviation |
XLID93;MRX93 |
| Name |
intellectual developmental disorder, X-linked type 93 (MRX93) |
| OMIM ID |
300659 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
Autosomal recessive |
| Individuals reported having this disease |
- |
| Phenotype entries for this disease |
- |
| Associated with 1 gene |
BRWD3 |
| Associated tissues |
- |
| Disease features |
intellectual disability (HP:0001249) 19/19; motor delay (HP:0001270) 18/19; speech articulation difficulties (HP:0009088) 18/19; macrocephaly at birth (HP:0004488) 12/14; behavioral disturbances (HP:0000708) 15/18; frontal bossing (HP:0002007) 14/19; large forehead (HP:0002003) 14/19; macrocephaly (HP:0000256) 14/19; large ears (HP:0000400) 11/15; neonatal hypotonia (HP:0001319) 13/19; pointed chin (HP:0000307) 13/19; protruding ear (HP:0000411) 12/19; low-set ears (HP:0000369) 9/15; shyness (HP:0100962) 8/14; cupped ears (HP:0000378) 7/16; deep set eyes (HP:0000490) 6/14; wide eyebrows (HP:0011229) 6/14; obesity (HP:0001513) 5/14; overweight (HP:0025502) 5/14; tall stature (HP:0000098) 5/14; long face (HP:0000276) 6/18; high palate (HP:0000218) 3/14; large hands (HP:0001176) 3/14; hyperactivity (HP:0000752) 4/19; absent speech (HP:0001344) 3/19; cryptorchidism (HP:0000028) 3/19; anteverted nares (HP:0000463) 2/14; cubitus valgus (HP:0002967) 2/14; falls (HP:0002527) 2/14; kyphosis (HP:0002808) 2/14; large birth weight-macrosomia (HP:0001520) 2/14; overgrowth (HP:0001548) 2/14; short finger (HP:0009381) 2/14; increased length at birth (HP:0003517) 2/16; downturned corner of the mouth (HP:0002714) 1/9; short palpebral fissures (HP:0012745) 1/9; wide nose (HP:0000445) 1/9; delayed puberty (HP:0000823) 1/14; hearing impairment (HP:0000365) 1/14; hypertelorism (HP:0000316) 1/14; ptosis (HP:0000508) 1/14; scoliosis (HP:0002650) 1/14; short stature (HP:0004322) 1/14; cleft palate (HP:0000175) 1/19 |
| Remarks |
- |
| Date created |
2014-09-25 23:29:40 +02:00 (CEST) |
| Date last edited |
2024-05-16 16:31:09 +02:00 (CEST) |
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