| Answer | None | LA137-2 |
| Answer | Ataxia | LA24636-5 |
| Answer | Autism | LA24638-1 |
| Answer | Cardiac defect(s) | LA24650-6 |
| Answer | Cleft lip or palate | LA24660-5 |
| Answer | CSF protein (>100mg/dl) | LA24682-9 |
| Answer | Decreased bone density | LA24691-0 |
| Answer | Delayed motor milestones | LA24693-6 |
| Answer | Dementia | LA20372-1 |
| Answer | Pediatric: Developmental delay | LA22265-5 |
| Answer | Diabetes mellitus | LA14291-1 |
| Answer | Dystonia | LA24705-8 |
| Answer | Esophageal defect(s) | LA24714-0 |
| Answer | Facial weakness | LA24720-7 |
| Answer | Gastrointestinal defect(s) | LA24730-6 |
| Answer | Gastrointestinal symptoms, recurrent | LA24731-4 |
| Answer | Genitourinary defect(s) | LA24733-0 |
| Answer | Headache, recurrent | LA24741-3 |
| Answer | Hearing defect(s) | LA24742-1 |
| Answer | Hypotonia | LA24751-2 |
| Answer | Intellectual disabilities | LA24759-5 |
| Answer | Klippel-feil | LA24771-0 |
| Answer | Learning disability | LA24778-5 |
| Answer | Limb malformations | LA24785-0 |
| Answer | Limb weakness | LA24786-8 |
| Answer | Myoclonus | LA24801-5 |
| Answer | Pigmentation of skin different from other family members | LA24851-0 |
| Answer | Polydactyly (digit abnormalities) | LA25437-7 |
| Answer | Renal defect(s) | LA24872-6 |
| Answer | Renal tubular dysfunction (Fanconi type) | LA24873-4 |
| Answer | Scoliosis | LA22278-8 |
| Answer | Seizures (history of, or treated) | LA24892-4 |
| Answer | Short stature | LA24894-0 |
| Answer | Skeletal defect(s) | LA24895-7 |
| Answer | Stroke-like episodes associated with seizures | LA24908-8 |
| Answer | Teeth defect(s) | LA24922-9 |
| Answer | Umbilical abnormalities | LA24936-9 |
| Answer | Other | LA46-8 |
| Answer | Unknown | LA4489-6 |
| answers-for | Systemic findings and diseases associated with ophthalmological condition | 79760-5 |
| STATUS | NotStated |
| LONG_COMMON_NAME | en-US | [NEI] Ophthalmologic disease related systemic find |
LOINC Version: 2.78