Disease #05727 (NEDVIBA (neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)), OMIM:618547)

Official abbreviation NEDVIBA
Name neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)
OMIM ID 618547
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene HK1
Associated tissues -
Disease features -
Remarks -
Date created 2020-04-19 12:42:42 +02:00 (CEST)
Date last edited N/A


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00409828 Patient 1 PubMed: Okur 2019 - F - - - - - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; short stature; age at sitting: delayed; age at walking: 2y3m; age at talking & current speech:delayed; dysmorphic features: 5th finger clinodactyly; neurologic & behavioral problems: ataxia anxiety; electroencephalogram: not available; brain magnetic resonance: abnormal signaling in caudate pathway and putamen; visual abnormalities: retinitis pigmentosa, peripheral vision loss and gaze abnormality; other abnormalities: kyphoscoliosis, pes planus HK1 HK1 1 1 LOVD
00409829 Patient 2 PubMed: Okur 2019 - F - - - - - - - NEDVIBA Prenatal development: cystic brain lesions found at 7m gestation but later resolved; developmental delay, intellectual disability ; no microcephaly; short stature; age at sitting: 2y; age at walking: cannot walk unassisted; age at talking & current speech:First words at 14 months & significantly limited, expressive language now, only a few words; dysmorphic features: right earlobe crease, frontal bossing, epicanthal folds, anteverted nose, bulbous nasal tip, preauricular pit, thin upper lip; neurologic & behavioral problems: truncal hypotonia limb hypertonia (lower > upper) brisk deep tendon reflexs some contractures in hamstrings, no self-care skills; electroencephalogram: normal; brain magnetic resonance: cerebral & cerebellar atrophy, thin corpus callosum, periventricular leukomalacia, possible gray matter heterotropia; visual abnormalities: cortical visual impairment, strabismus, astigmatism; other abnormalities: scoliosis, bilateral hip dislocation (Wears AFOs), torticollis, clonus, and spasticity as innt, poor weight gain HK1 HK1 1 1 LOVD
00409830 Patient 3 PubMed: Okur 2019 - M - - - - - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: 8m; age at walking: 1y6m; age at talking & current speech:2 years & Speaks in sentences and has word finding difficulties; dysmorphic features: none; neurologic & behavioral problems: ataxia, staring spells, tingling in legs (electromyography normal), hypotonia, will hug and kiss strangers; electroencephalogram: normal; brain magnetic resonance: cystic lesion on brain; visual abnormalities: retinitis pigmentosa, cone-rod dystrophy, optic atrophy, photophobia, slight exotropia, bilateral strabismus; other abnormalities: familial mediterranean fever (heterozygous MEFV mutation), gags easily and sometimes chokes on f HK1 HK1 1 1 LOVD
00409831 Patient 4 PubMed: Okur 2019 - M - - - - - - - NEDVIBA Prenatal development: premature, born at 8m gestation; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: 8m; age at walking: 1y4m; age at talking & current speech:1y6m; dysmorphic features: none; neurologic & behavioral problems: none; electroencephalogram: not available; brain magnetic resonance: not available; visual abnormalities: retinitis pigmentosa (age of diagnosis: 7 years), optic atrophy; other abnormalities: hypertension HK1 HK1 1 1 LOVD
00409832 Patient 5 PubMed: Okur 2019 - M - - - - - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: n/a; age at walking: 1y; age at talking & current speech:delayed & dysarthric speech; dysmorphic features: flat occiput, slight synophrys (father), widely spaced teeth; neurologic & behavioral problems: progressive neurologic decline, abnormal tone, mild wide spaced gait, bulbar weakness (mild drooling), swallowing dysfunction recent onset right-sided facial weakness; electroencephalogram: mild diffuse slowing; brain magnetic resonance: lesions in brainstem (concerning for a demyelinating disease vs autoimmune process vs Guillain Barre syndrome); visual abnormalities: bilateral optic atrophy; other abnormalities: full cheeks (steroid usage) ,truncal obesity, high blood vs zero cerebrospinal fluid glutamine, high cerebrospinal fluid lactate and pyruvate, high peripheral blood lactate HK1 HK1 1 1 LOVD
00409833 Patient 6 PubMed: Okur 2019 - M - - - <1y - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: not achieved; age at walking: not achieved; age at talking & current speech:not achieved; dysmorphic features: none; neurologic & behavioral problems: seizures infantile spasms limb hypertonia; electroencephalogram: consistent with early myoclonic epileptic encephalopathy; brain magnetic resonance: abnormal autopsy findings volume loss along the white matter adjacent to the atria and frontal horns of the ventricle, atrophy of pons and brainstem, bilateral subdural fluid collection; visual abnormalities: optic atrophy nystagmus; other abnormalities: feeding difficulty, gastroesophageal reflux disease, small umbilical hernia, laryngotracheomalacia HK1 HK1 1 1 LOVD
00409834 Patient 7 PubMed: Okur 2019 - F - - - <1y - - - NEDVIBA Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: not achieved; age at walking: not achieved; age at talking & current speech:not achieved; dysmorphic features: none; neurologic & behavioral problems: seizures infantile spasms hypertonia; electroencephalogram: abnormal (verbal disclosure); brain magnetic resonance: ventricular dilatation predominantly involving the occipital and temporal horns of the lateral ventricles with prominence of the subarachnoid space raising the possibility of underlying atrophy and a migrational anomaly; visual abnormalities: optic atrophy; other abnormalities: failure to thrive, gastroesophageal reflux disease, g-tube, hearing loss, laryngotracheomalacia respiratory distress HK1 HK1 1 1 LOVD
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