Disease #05304 (LAMSHF (Lamb-Shaffer syndrome (LAMSHF)), OMIM:616803)

Official abbreviation LAMSHF
Name Lamb-Shaffer syndrome (LAMSHF)
OMIM ID 616803
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene SOX5
Associated tissues -
Disease features neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, mild dysmorphic facial features and variable skeletal abnormalities
Remarks -
Date created 2017-07-14 14:26:25 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00377150 181007 - - M no Germany - - - - - LAMSHF Microcephaly, Abnormality of the pinna, Macrotia, Strabismus, Abnormal conjugate eye movement, Global developmental delay, Short foot, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the feet, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay, Decreased head circumference, Small hand - - - 1 Andreas Laner
00377151 181007 - - M no Germany - - - - - LAMSHF Microcephaly, Abnormality of the pinna, Macrotia, Strabismus, Abnormal conjugate eye movement, Global developmental delay, Short foot, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the feet, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay, Decreased head circumference, Small hand SOX5 SOX5 1 1 Andreas Laner
00386541 187022 - - F no Germany - - - - - LAMSHF EEG abnormality, Delayed speech and language development, Speech apraxia, Expressive language delay, Receptive language delay, Impaired convergence, Neurodevelopmental delay SOX5 SOX5 1 1 Andreas Laner
00447892 282585 - - F no Germany - - - - - LAMSHF Neurodevelopmental delay, Motor delay, Hypotonia, Elevated circulating creatine kinase concentration, Facial asymmetry SOX5 SOX5 1 1 Andreas Laner
00459793 313620 - - F - ? (unknown) - - - - - LAMSHF Global developmental delay, Hypotonia, Joint hypermobility, Low-set ears, Protruding ear, Synophrys SOX5 SOX5 1 1 Andreas Laner
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