Results 1 -
10
of
835
for
without
- Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological disorder that can also affect many other body systems. ...
- ... GTP-binding protein Roc1 MGC125864 MGC125865 Ras-like without CAAX 1 ras-like without CAAX protein 1 RIBB RIT ROC1 Tests of RIT1 PubMed RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1 NCBI Gene ClinVar Berger ...
- ... migraine. In some cases, an aura can occur without a subsequent migraine.In the headache phase, the ... associated with the development of migraines with or without aura. These genes likely have varying degrees of ...
- ... gov SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY; SRTD1 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 SHORT-RIB THORACIC DYSPLASIA 9 WITH ...
- ... cases, no cullin-3 protein production at all. Without the normal amount of functioning cullin-3 proteins, ... in their family. NEDAUS Neurodevelopmental disorder with or without autism or seizures Genetic Testing Registry: Neurodevelopmental disorder ...
- ... first experience health problems in childhood or adolescence; without treatment, these individuals typically live into early adulthood. ... early adulthood and typically survive into mid-adulthood without treatment.Cardiomyopathy is the most common symptom of ...
- ... X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically ... form of the disorder.XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder ...
- ... syndrome AMRF Epilepsy, progressive myoclonic 4, with or without renal failure EPM4 Familial myoclonus with renal failure ... Disorders (NORD) EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4 PubMed Balreira A, Gaspar P, ...
- ... percent of people with CECTS. In affected people without a GRIN2A gene variant, the cause of the ... Focal epilepsy with speech disorder and with or without mental retardation Landau-Kleffner syndrome National Organization for ...
- ... certain fats to energy, particularly during prolonged periods without food (fasting).Initial signs and symptoms of this ... short-chain fatty acids cannot be metabolized properly without sufficient levels of this enzyme. As a result, ...