Disease #04589 (CLIFAHDD (contractures, limbs and face, congenital, hypotonia, and developmental delay (CLIFAHDD)), OMIM:616266)

Official abbreviation CLIFAHDD
Name contractures, limbs and face, congenital, hypotonia, and developmental delay (CLIFAHDD)
OMIM ID 616266
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene NALCN
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00391857 228P - - F no Spain - - - - - CLIFAHDD, IHPRF1 - - NALCN, PC 3 1 Alejandro Brea-Fernández
00452780 - - - F no Italy - - - - - CLIFAHDD inability to walk on toes, on heels, or in tandem; moderate limb dysmetria; adiadochokinesia; mild upward ophthalmospasms; oculomotor apraxia; slurred speech; facial grimaces; inappropriate laughing; moderate cognitive difficulty in several domains. Brain magnetic resonance imaging showed cerebellar atrophy, particularly of vermis and inferior lobe, and asymmetry in the occipital bones. NALCN NALCN 1 158 Domenico Coviello
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