Delayed speech and language development, and Dilated cardiomyopathy

Diseases related with Delayed speech and language development and Dilated cardiomyopathy

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Dilated cardiomyopathy that can help you solving undiagnosed cases.


Top matches:

High match ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

gene (11q25).

ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency, acyl-coa dehydrogenase family, member 8, deficiency of, acad8 deficiency;isobutyric aciduria

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia


SOURCES: GARD MONDO ORPHANET OMIM SCTID MESH UMLS NCIT

More info about ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

High match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E Is also known as ;beta-sarcoglycanopathy; lgmd2e; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Milia
  • Myopathy
  • Nevus
  • Delayed speech and language development


SOURCES: MONDO SCTID DOID OMIM UMLS GARD ORPHANET

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

High match MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

This form of autosomal recessive congenital muscular dystrophy is characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities;congenital megaconial myopathy; congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; congenital muscular dystrophy with mitochondrial structural abnormalities

Related symptoms:

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


SOURCES: MONDO DOID OMIM ORPHANET UMLS MESH GARD

More info about MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

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Other less relevant matches:

High match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2 Is also known as ;bola3 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM UMLS MONDO DOID

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

High match MITOCHONDRIAL COMPLEX II DEFICIENCY

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

MITOCHONDRIAL COMPLEX II DEFICIENCY Is also known as succinate coq reductase deficiency;isolated mitochondrial respiratory chain complex ii deficiency; isolated succinate-coenzyme q reductase deficiency; isolated succinate-ubiquinone reductase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: GARD UMLS ORPHANET SCTID MONDO OMIM MESH DOID

More info about MITOCHONDRIAL COMPLEX II DEFICIENCY

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

gene led to a 96 to 98% reduction in DK activity.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M Is also known as cdg im;cdgim, dolichol kinase deficiency, dk1 deficiency;cdg syndrome type im; cdg-im; cdg1m; carbohydrate deficient glycoprotein syndrome type im; congenital disorder of glycosylation type 1m; congenital disorder of glycosylation type im; dolichol kinase deficiency; hypotonia and ichthyosis due to dolichol phosphate deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET UMLS MESH OMIM MONDO SCTID GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy

Related symptoms:

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


SOURCES: MONDO UMLS SCTID ORPHANET DOID NCIT OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: UMLS MONDO OMIM

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Medium match CHROMOSOME 1p36 DELETION SYNDROME

The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH ), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (OMIM ) on proximal chromosome 1p36.

CHROMOSOME 1p36 DELETION SYNDROME Is also known as monosomy 1p36 syndrome;del(1)(p36); deletion 1p36; deletion 1pter; monosomy 1p36; monosomy 1pter; subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: GARD UMLS ORPHANET MONDO SCTID DOID OMIM NCIT MESH

More info about CHROMOSOME 1p36 DELETION SYNDROME

Medium match DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM Is also known as ;fdfm

Related symptoms:

  • Autosomal dominant inheritance
  • Generalized hypotonia
  • Motor delay
  • Milia
  • Myopathy


SOURCES: MESH UMLS MONDO OMIM ORPHANET GARD

More info about DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Myopathy Very Common - Between 80% and 100% cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Microcephaly Cognitive impairment Nystagmus Absent speech Optic atrophy Visual impairment Short stature Muscular hypotonia Milia Muscle weakness Intellectual disability Growth delay Ataxia Hypermetropia Flexion contracture Failure to thrive Strabismus Cataract Ventriculomegaly Gait disturbance Infantile onset Elevated serum creatine phosphokinase Muscular dystrophy Myoclonus

Rare Symptoms - Less than 30% cases


Anemia Hyperreflexia Cryptorchidism Vomiting Brachycephaly Tremor Pica EEG abnormality Dysarthria Arrhythmia Hypoplasia of the corpus callosum Long philtrum Leukodystrophy Midface retrusion Death in infancy Dystonia Tetraplegia Babinski sign Hypsarrhythmia Agenesis of corpus callosum Rigidity Camptodactyly of finger Hydrocephalus Myopia Intrauterine growth retardation Scoliosis Polymicrogyria Pachygyria Cerebral cortical atrophy Abnormal facial shape Dilatation Congestive heart failure Left ventricular noncompaction Leukoencephalopathy Pigmentary retinopathy Generalized muscle weakness Lactic acidosis Hearing impairment Retinopathy Sensorineural hearing impairment Obesity Hypertonia Hypertrophic cardiomyopathy Neonatal hypotonia Mandibular prognathia Poor speech Falls Ichthyosis Attention deficit hyperactivity disorder Hypogonadism Proximal muscle weakness Gowers sign Calf muscle hypertrophy Hypothyroidism Synophrys Atrial septal defect Deeply set eye Skeletal muscle atrophy Broad-based gait Increased variability in muscle fiber diameter Congenital muscular dystrophy Pulmonic stenosis Encephalopathy Waddling gait Respiratory distress Pes cavus Spasticity Hepatomegaly Difficulty walking Juvenile onset Prominent forehead Narrow mouth Posteriorly rotated ears Constipation Goiter Upslanted palpebral fissure Patent ductus arteriosus Delayed skeletal maturation Clinodactyly of the 5th finger Hypospadias Behavioral abnormality Abnormality of cardiovascular system morphology Gastroesophageal reflux Hydronephrosis Autism Abnormal lung morphology Hypergonadotropic hypogonadism Blepharophimosis Low-set, posteriorly rotated ears Coloboma Camptodactyly Kyphosis Acanthosis nigricans Conductive hearing impairment Sporadic Lymphopenia Aggressive behavior Bone marrow hypocellularity Joint stiffness Feeding difficulties in infancy Malar flattening Downslanted palpebral fissures Dysdiadochokinesis Abnormality of lipid metabolism Nodular goiter Chronic lung disease Low hanging columella Shuffling gait Bilateral cryptorchidism Unilateral renal agenesis Truncal obesity Long nose Multinodular goiter Cortical gyral simplification Slurred speech High pitched voice Misalignment of teeth Cutaneous photosensitivity Glioma Limb undergrowth Increased circulating gonadotropin level Ectopic kidney Sensory axonal neuropathy Postural tremor Cerebellar vermis atrophy Epidermal acanthosis Abnormality of the skeletal system Dysphagia Ventricular septal defect Frontal bossing Tics Wide nasal bridge Brachydactyly Short chin High palate Epicanthus Depressed nasal bridge Low-set ears Hypertelorism Gastrointestinal stroma tumor Thyroid nodule Long neck Insulin resistance Cranial nerve paralysis Neurological speech impairment Delayed closure of the anterior fontanelle Horizontal eyebrow Impaired social interactions Abnormality of female external genitalia Abnormality of the spleen Thickened helices 11 pairs of ribs Rib fusion Delayed CNS myelination Dilation of lateral ventricles Self-mutilation Annular pancreas Lower limb asymmetry Optic nerve coloboma Abnormality of the neck Short 5th finger Ocular albinism Abnormal eyebrow morphology Aortic root aneurysm Overweight Neuroblastoma Abnormality of the anus Aortic arch aneurysm Foot polydactyly Abnormality of movement Paroxysmal dyskinesia Myokymia Limb hypertonia Resting tremor Involuntary movements Choreoathetosis Athetosis Dyskinesia Chorea Clonus Cranial nerve VI palsy Anxiety Muscular hypotonia of the trunk Autosomal dominant inheritance Agenesis of the anterior commissure Ebstein anomaly of the tricuspid valve Abnormality of the hairline Noncompaction cardiomyopathy Bifid ribs Oppositional defiant disorder Asymmetry of the ears Spinal canal stenosis Abnormal heart valve morphology Microtia Hip dysplasia Generalized hirsutism Heterotopia Wide anterior fontanel Hypertrichosis Hepatitis Depressed nasal ridge Abnormal blistering of the skin Tetraparesis Optic disc pallor Tetralogy of Fallot Macule Hypoplasia of penis Delayed myelination Bifid uvula Short foot Hepatic steatosis Renal cyst Abnormality of the kidney Cleft upper lip Abnormal cardiac septum morphology Abnormality of the liver Telangiectasia Stereotypy High hypermetropia Abnormality of the immune system Congenital hypothyroidism Abnormal lung lobation Infantile spasms Submucous cleft hard palate Absent septum pellucidum Polyphagia Facial cleft Self-injurious behavior Dysphasia Delayed cranial suture closure Pointed chin Abnormal intestine morphology Metatarsus adductus Hemiplegia/hemiparesis Patent foramen ovale Pyloric stenosis Bicuspid aortic valve Abnormality of vision Sloping forehead Hypercholesterolemia Spastic tetraparesis Apraxia Exaggerated startle response Bradykinesia Ketonuria Left ventricular systolic dysfunction Progressive leukoencephalopathy Increased intramyocellular lipid droplets Eclampsia Preeclampsia Ketosis Ragged-red muscle fibers Easy fatigability Stress/infection-induced lactic acidosis External ophthalmoplegia Exercise intolerance Mitral regurgitation Spastic tetraplegia Generalized myoclonic seizures Increased serum lactate Ophthalmoplegia Ranula Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Respiratory tract infection Inflammatory abnormality of the skin Aplasia/Hypoplasia of the nipples Myocarditis Epileptic spasms Abnormality of coagulation Lipoatrophy Severe muscular hypotonia Aspiration Sparse eyelashes Postnatal microcephaly Splenomegaly Sparse and thin eyebrow Recurrent pneumonia Dry skin Myalgia Hypoglycemia Elevated hepatic transaminase Hyperkeratosis Alopecia Developmental regression Dementia Congenital hepatic fibrosis Pelvic girdle muscle weakness Hyperactivity Congenital onset Hyporeflexia Intellectual disability, mild Pelvic girdle muscle atrophy Calf muscle pseudohypertrophy Shoulder girdle muscle atrophy Limb-girdle muscle weakness Proximal amyotrophy Slow progression Myoglobinuria Myopathic facies Scapular winging Cirrhosis Nevus Peripheral pulmonary artery stenosis Decreased plasma carnitine Dehydration Facial palsy Mitral valve prolapse Acidosis Epileptic encephalopathy Blindness Ptosis Nonketotic hyperglycinemia Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Hyperglycinemia Malnutrition Poor head control Abnormality of extrapyramidal motor function Frequent falls Lethargy Respiratory failure Mitochondrial depletion Difficulty standing Mitochondrial inheritance Mildly elevated creatine phosphokinase Infantile muscular hypotonia Trophic changes related to pain Adactyly Hypoketotic hypoglycemia Hypotelorism Thoracic hemivertebrae Immunodeficiency Hernia Thrombocytopenia Inguinal hernia Peripheral neuropathy Neoplasm Hypoglycosylation of alpha-dystroglycan Hypoplasia of the pyramidal tract Lobar holoprosencephaly Micropenis Myocardial fibrosis Auricular tag Type II lissencephaly Cerebellar dysplasia Buphthalmos Cerebellar cyst Ankle contracture Retinal dysplasia Recurrent infections Clinodactyly Anencephaly Dysmetria Renal hypoplasia Renal agenesis Convex nasal ridge Broad nasal tip Decreased testicular size Polyneuropathy Sensory neuropathy Triangular face Long face Severe short stature Small for gestational age Prominent nasal bridge Sparse hair Short philtrum Postnatal growth retardation Abnormal pyramidal sign High forehead Diabetes mellitus Weak cry Transposition of the great arteries Ketotic hypoglycemia Oxycephaly Retinal detachment Abnormality of the cerebral white matter Dolichocephaly Congenital cataract Arthrogryposis multiplex congenita Hip dislocation Apnea Abnormality of the pinna Glaucoma Brain atrophy Cerebellar hypoplasia Areflexia Pectus excavatum Microphthalmia Respiratory insufficiency Intellectual disability, severe Macrocephaly Abnormal isoelectric focusing of serum transferrin Abnormal cerebellum morphology Cerebellar vermis hypoplasia Atrophy/Degeneration affecting the brainstem Holoprosencephaly Spinal rigidity Multiple joint contractures Generalized amyotrophy Cortical dysplasia Cephalocele Hypoplasia of the brainstem Skeletal muscle hypertrophy Mask-like facies Lissencephaly Encephalocele Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Hemivertebrae Knee flexion contracture Bradycardia EMG abnormality Preauricular skin tag Congenital hip dislocation Facial myokymia



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