Delayed speech and language development, and Nephrotic syndrome

Diseases related with Delayed speech and language development and Nephrotic syndrome

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.


Top matches:

Medium match GALLOWAY-MOWAT SYNDROME 4; GAMOS4

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 ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MONDO DOID UMLS

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Medium match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

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 ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM DOID MONDO

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: GARD MONDO ORPHANET OMIM UMLS

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M

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Other less relevant matches:

Medium match AICARDI-GOUTIERES SYNDROME 7; AGS7

Aicardi-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 ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

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).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM UMLS MONDO

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Medium match MENTAL RETARDATION, X-LINKED 98; MRX98

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 ;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM SCTID MONDO ORPHANET

More info about MENTAL RETARDATION, X-LINKED 98; MRX98

Medium match GALLOWAY-MOWAT SYNDROME 3; GAMOS3

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 ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: UMLS OMIM MONDO DOID

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1

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 ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 Is also known as mabry syndrome, glycosylphosphatidylinositol biosynthesis defect 2;gpibd2;mabry syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET SCTID OMIM UMLS MONDO

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1

Medium match CHROMOSOME 13q14 DELETION SYNDROME

Monosomy 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

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO UMLS MESH NCIT ORPHANET OMIM DOID

More info about CHROMOSOME 13q14 DELETION SYNDROME

Medium match MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

Female-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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO ORPHANET UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Nephrotic syndrome

Symptoms // Phenotype % cases
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
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Other less frequent symptoms

Patients with Delayed speech and language development and Nephrotic syndrome. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Spasticity Cerebral atrophy Cerebellar hypoplasia Hearing impairment Hypertelorism Hydronephrosis Strabismus Narrow forehead Wide nasal bridge Thin upper lip vermilion Absent speech Intrauterine growth retardation Hypoplasia of the corpus callosum Micrognathia Muscular hypotonia of the trunk Cleft palate Thin vermilion border Cataract Midface retrusion Clinodactyly of the 5th finger Clinodactyly Finger clinodactyly Ventriculomegaly Short nose Hip dislocation Open mouth Downslanted palpebral fissures Nystagmus Esotropia Proteinuria Tapered finger Focal segmental glomerulosclerosis Glomerulosclerosis

Rare Symptoms - Less than 30% cases


Long philtrum Short neck Malar flattening Prominent nasal bridge Autistic behavior Severe global developmental delay Patent ductus arteriosus Arachnodactyly Single transverse palmar crease Sensorineural hearing impairment Macrotia Scoliosis Hypotelorism X-linked recessive inheritance Diffuse mesangial sclerosis Tented upper lip vermilion Short philtrum Broad forehead Thickened helices Bulbous nose Bifid uvula Renal dysplasia Low-set ears Constipation Patent foramen ovale Polymicrogyria Brachydactyly Failure to thrive Postnatal microcephaly Tetraparesis Microphthalmia Mandibular prognathia Coarse facial features Gastroesophageal reflux Thick eyebrow Muscular hypotonia Cerebellar atrophy X-linked dominant inheritance Hypsarrhythmia Ventricular septal defect Intellectual disability, severe Atrial septal defect Autosomal dominant inheritance Coloboma Anal atresia Posteriorly rotated ears Epicanthus Cryptorchidism Pica Inability to walk Shortening of all distal phalanges of the fingers Rectovestibular fistula Short toe Macrocephaly Ptosis Aganglionic megacolon High palate Highly arched eyebrow Profound global developmental delay Small nail Frontal bossing Sparse scalp hair Motor delay Autosomal recessive inheritance Delayed ossification of carpal bones Downturned corners of mouth Plagiocephaly Broad nasal tip Cleft lip Abnormality of the liver Short distal phalanx of finger Abnormality of the nervous system Abnormality of thyroid physiology Oxycephaly Upslanted palpebral fissure Cleft upper lip Anteriorly placed anus Long palpebral fissure Abnormally large globe Hydrocephalus Cupped ear Elevated alkaline phosphatase Hypertrichosis Finger syndactyly Abnormality of cardiovascular system morphology Abnormality of the genitourinary system Short 5th toe Depressed nasal bridge Myopia Abnormality of the dentition Respiratory distress Pes cavus Recurrent respiratory infections Brachycephaly Prominent forehead Abnormality of the genital system Polydactyly Joint laxity Respiratory tract infection Anteverted ears Facial asymmetry Smooth philtrum Hypermetropia Short foot Astigmatism Small hand Postaxial polydactyly Prominent nose Hip dysplasia Short palpebral fissure Sacral dimple Choanal atresia Leukocoria Retinoblastoma Inguinal hernia Webbed neck Hernia Micropenis Abnormal heart morphology High forehead Sporadic Protruding ear Wide mouth Dandy-Walker malformation Dolichocephaly Flared nostrils Iris coloboma Everted lower lip vermilion Wide anterior fontanel Abnormality of the gastrointestinal tract Hand clenching Abnormal dermatoglyphics Abnormal cortical gyration Lower limb asymmetry Deep philtrum Holoprosencephaly Chorioretinal coloboma Trigonocephaly Supernumerary nipple Retinal coloboma Absent septum pellucidum Aplasia/Hypoplasia of the thumb Hypertensive crisis Round face Corpus callosum atrophy Increased antibody level in blood Paraplegia Tetraplegia Brain atrophy Spastic tetraplegia Progressive neurologic deterioration Lower limb spasticity Progressive microcephaly Vasculitis Spastic tetraparesis Toe walking Basal ganglia calcification Lymphadenopathy Pericardial effusion Progressive spastic paraplegia Atopic dermatitis Serositis Chilblains Anemia Talipes equinovarus Narrow mouth Pes planus Conductive hearing impairment Abnormality of eye movement Abnormality of the cerebral white matter Talipes Delayed myelination Visual impairment Macule Dysmetria Minimal change glomerulonephritis Infantile onset Arrhythmia Encephalopathy Recurrent infections Rod-cone dystrophy Thick vermilion border Epileptic encephalopathy Spastic paraplegia Epileptic spasms Somatic mosaicism Aplasia/hypoplasia of the extremities Hepatomegaly Splenomegaly Dystonia Thrombocytopenia Alopecia Developmental regression Skin rash Irritability Synophrys Flat face Hypoplastic left heart Polyhydramnios Coarse hair Abnormality of the musculature Long nose Shawl scrotum Poor eye contact Protruding tongue Central hypothyroidism Anteverted nares Edema Pectus excavatum Camptodactyly Absence seizures Ichthyosis Convex nasal ridge Oligohydramnios Sloping forehead Coarctation of aorta Pachygyria Leukodystrophy Hypocalcemia Lissencephaly Hypoalbuminemia Cortical gyral simplification Drooling Stereotypy Delayed eruption of teeth Congenital onset Joint hypermobility Dental crowding Nephrocalcinosis Calcinosis Hypercalciuria Severe sensorineural hearing impairment Large forehead Elliptocytosis Broad distal phalanx of finger Cleft hard palate Cerebral cortical atrophy Generalized seizures Gait ataxia Hyperactivity Hypothyroidism Autism EEG abnormality Neonatal hypotonia Aggressive behavior Postnatal growth retardation Poor speech Underdeveloped nasal alae Status epilepticus Unilateral breast hypoplasia



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