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Items: 3

1.

Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language

ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024). [from OMIM]

MedGen UID:
1854654
Concept ID:
C5935628
Disease or Syndrome
2.

Hypomyelinating leukodystrophy 10

Hypomyelinating leukodystrophy-10 (HLD10) is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by Nakayama et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. [from OMIM]

MedGen UID:
904191
Concept ID:
C4225332
Disease or Syndrome
3.

Hypoplasia of the antihelix

Developmental hypoplasia of the antihelix. [from HPO]

MedGen UID:
867036
Concept ID:
C4021394
Anatomical Abnormality

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