Delayed speech and language development, and Fatigue

Diseases related with Delayed speech and language development and Fatigue

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


Top matches:

Medium match CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3

Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain (Schulze, 2003). Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Oral creatine supplementation can offer symptom improvement (summary by Edvardson et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of cerebral creatine deficiency syndrome, see CCDS1 (OMIM ).

CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 Is also known as arginine:glycine amidinotransferase deficiency, agat deficiency, gatm deficiency, creatine deficiency syndrome due to agat deficiency;agat deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MONDO UMLS MESH ORPHANET GARD DOID SCTID OMIM

More info about CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency;gsd due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH GARD MONDO OMIM ORPHANET NCIT UMLS

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017).For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMD2A (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S Is also known as ;lgmd2s

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID ORPHANET OMIM MONDO UMLS GARD

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

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Other less relevant matches:

Medium match AGAMMAGLOBULINEMIA, X-LINKED; XLA

X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1 ) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.

AGAMMAGLOBULINEMIA, X-LINKED; XLA Is also known as bruton-type agammaglobulinemia, agammaglobulinemia, x-linked, type 1;agmx1, immunodeficiency 1;imd1;btk-deficiency; bruton type agammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: SCTID OMIM ORPHANET

More info about AGAMMAGLOBULINEMIA, X-LINKED; XLA

Low match GLYCOGEN STORAGE DISEASE VI; GSD6

GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as gsd vi, hers disease, phosphorylase deficiency glycogen-storage disease of liver

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM

More info about GLYCOGEN STORAGE DISEASE VI; GSD6

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD

type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD Is also known as cbld defect; cobalamin d defect; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld; methylmalonic aciduria with homocystinuria, type cbld

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Gait disturbance


SOURCES: SCTID UMLS ORPHANET

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD

Low match CREATINE PHOSPHOKINASE, ELEVATED SERUM

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]

CREATINE PHOSPHOKINASE, ELEVATED SERUM Is also known as cpk, elevated serum, hyperckemia, idiopathic

Related symptoms:

  • Autosomal dominant inheritance
  • Failure to thrive
  • Motor delay
  • Milia
  • Nevus


SOURCES: MONDO OMIM UMLS

More info about CREATINE PHOSPHOKINASE, ELEVATED SERUM

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3

MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3 Is also known as muscular dystrophy, limb-girdle, type 2o;lgmd2o, muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related;lgmd2o

Related symptoms:

  • Autosomal recessive inheritance
  • Motor delay
  • Muscle weakness
  • Myopia
  • Skeletal muscle atrophy


SOURCES: GARD OMIM UMLS ORPHANET MONDO DOID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3

Low match ATHYREOSIS

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Muscle weakness


SOURCES: ORPHANET

More info about ATHYREOSIS

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28 Is also known as ;coxpd28; combined oxidative phosphorylation defect type 28

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET UMLS MONDO

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Intellectual disability Muscular dystrophy Myopathy Elevated serum creatine phosphokinase Seizures Growth delay Gowers sign Nevus Proximal muscle weakness Ataxia Myalgia Generalized hypotonia Muscle cramps

Rare Symptoms - Less than 30% cases


Fever Cerebral cortical atrophy Feeding difficulties Rhabdomyolysis Trophic changes related to pain Increased muscle fatiguability Exercise-induced muscle cramps X-linked recessive inheritance Hepatomegaly Pain Myopia Constipation Abnormality of movement Rod-cone dystrophy Hyperlordosis Encephalopathy Infantile onset Behavioral abnormality Anemia Progressive proximal muscle weakness Renal insufficiency Tics Recurrent pneumonia Septic arthritis Epididymitis Sinusitis Prostatitis Abnormality of the tonsils Lymph node hypoplasia Hepatitis Otitis media Decreased antibody level in blood Hyperlipidemia Enteroviral hepatitis Ketosis Recurrent cutaneous abscess formation Hypoglycemia Postnatal growth retardation Ranula Hypertriglyceridemia Hypercholesterolemia Enteroviral dermatomyositis syndrome Chronic diarrhea Pyoderma Osteomyelitis Telangiectasia Abnormal lung morphology Conjunctivitis Hypocalcemia Increased hepatic glycogen content Recurrent bacterial infections Encephalitis Cellulitis Meningitis Chronic otitis media Skin ulcer Rheumatoid arthritis Myositis Glossoptosis Agammaglobulinemia Myelopathy Cor pulmonale Lymphopenia Abnormality of the lymphatic system Thymoma Recurrent urinary tract infections Hypopigmented skin patches Inflammatory myopathy Gait disturbance Respiratory failure Large fontanelles Abnormality of the face Hypersomnia Thyroid agenesis Hypertension Edema Congestive heart failure Polyhydramnios Acidosis Abdominal pain Macroglossia Lactic acidosis Increased serum lactate Decreased fetal movement Bradycardia Ragged-red muscle fibers Poor appetite Severe lactic acidosis Increased serum pyruvate Caesarian section Decreased activity of mitochondrial complex I Abdominal distention Hypothyroidism Pallor Abnormality of muscle fibers Lethargy Anorexia Megaloblastic bone marrow Autosomal dominant inheritance Milia Asthma EMG: myopathic abnormalities Delayed gross motor development Mitochondrial myopathy Malignant hyperthermia Neutropenia Coarse facial features Skeletal muscle atrophy Progressive Limb muscle weakness Polymicrogyria Lumbar hyperlordosis Skeletal muscle hypertrophy Difficulty climbing stairs Generalized amyotrophy Muscular hypotonia Intellectual disability, severe Sepsis Asymmetric growth Malabsorption Scoliosis Emotional lability Reticulocytosis Acute kidney injury Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Recurrent myoglobinuria Exercise-induced myoglobinuria Microcephaly Strabismus Purpura Cataract Spasticity Dysarthria Intrauterine growth retardation Tremor Cerebellar atrophy Dystonia Cerebral atrophy Hyporeflexia Exercise intolerance Hyperbilirubinemia Hyperkeratosis Organic aciduria Cognitive impairment Pes cavus Autism Aciduria Language impairment Failure to thrive in infancy Infantile muscular hypotonia Decreased muscle mass Long fingers Abnormality of creatine metabolism Spastic tetraparesis Brachydactyly Splenomegaly Visual loss Jaundice Hepatosplenomegaly Mental deterioration Hemolytic anemia Retinal dystrophy Migraine Tetraparesis Brachycephaly Elevated hepatic transaminase Autoimmunity Pneumonia Speech apraxia Alacrima Recurrent ear infections Exophoria Hearing impairment Sensorineural hearing impairment Neoplasm Diarrhea Thrombocytopenia Dilatation Limb-girdle muscular dystrophy Depressivity Immunodeficiency Recurrent infections Alopecia Dementia Arthritis Weight loss Retinopathy Skin rash Achalasia Esophagitis Difficulty walking Waddling gait Attention deficit hyperactivity disorder Congenital cataract Abnormality of the liver Carious teeth Unsteady gait Hepatic steatosis Poor speech Chorea Focal seizures Esotropia Impulsivity Hip dysplasia Apraxia Athetosis Generalized seizures Inability to walk Lower limb spasticity Truncal ataxia Amblyopia CNS hypomyelination Adrenal insufficiency Decreased activity of mitochondrial complex IV



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