In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Nephrotic syndrome that can help you solving undiagnosed cases.
Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).
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Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).
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SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M Is also known as cdg iim;cdgiim, epileptic encephalopathy, early infantile, 22;eiee22;cdg syndrome type iim; cdg-iim; cdg2m; congenital disorder of glycosylation type 2m; congenital disorder of glycosylation type iim
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SOURCES: GARD MONDO ORPHANET OMIM UMLS
More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2MAicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).
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Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).
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X-linked mental retardation-98 is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).
MENTAL RETARDATION, X-LINKED 98; MRX98 Is also known as ;
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SOURCES: UMLS OMIM SCTID MONDO ORPHANET
More info about MENTAL RETARDATION, X-LINKED 98; MRX98Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).
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Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ).
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 Is also known as mabry syndrome, glycosylphosphatidylinositol biosynthesis defect 2;gpibd2;mabry syndrome
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SOURCES: ORPHANET SCTID OMIM UMLS MONDO
More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.
CHROMOSOME 13q14 DELETION SYNDROME Is also known as chromosome 13q deletion syndrome;del(13)(q14); deletion 13q14
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SOURCES: MONDO UMLS MESH NCIT ORPHANET OMIM DOID
More info about CHROMOSOME 13q14 DELETION SYNDROMEFemale-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F Is also known as ;x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
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SOURCES: MONDO ORPHANET UMLS OMIM
More info about MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99FSymptoms // Phenotype | % cases |
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Generalized hypotonia | Very Common - Between 80% and 100% cases |
Seizures | Common - Between 50% and 80% cases |
Abnormal facial shape | Common - Between 50% and 80% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Microcephaly | Common - Between 50% and 80% cases |
Patients with Delayed speech and language development and Nephrotic syndrome. may also develop some of the following symptoms:
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