Phenotype #0000309727

Individual ID 00418358
Associated disease ID
Diagnosis/Initial syndromic intellectual disability
Diagnosis/Definite MRXS34
Inheritance Familial, X-linked
Phenotype details intra-uterine growth retardation; birth weight <<0.4thC, length <3rdC, OFC 10thC; weight 42kg (<0.4th), height 164.3cm (2nd-9th), OFC 55.3cm; 7y-walk, speech short sentences; no nasal speech; elocution disability; drooling; intellectual disability; no epilepsy; myopia, nystagmus-registered as partially sighted; shy with strangers, gentle, affectionate, cheerful, mood swings ; no sleeping disorder; delayed puberty; slender built; kyphosis; bilateral ankylosis of MCP joint of P1, proximal interphalangeal joint; pes planus; long face; upslanting palpebral fissures; malarhypoplasia; thin high nasal root; small mouth, open mouth; submuscous cleft, high palate, with bifid uvula; crowded protruding teeth, thickened gums; CT brain dysgenesis corpus callosum, widely spaced with a high 3rd ventricle
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-09-28 19:18:08 +02:00 (CEST)
Date last edited N/A

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