Delayed speech and language development, and Sudden cardiac death

Diseases related with Delayed speech and language development and Sudden cardiac death

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


Top matches:

High match LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Myopathy
  • Feeding difficulties
  • Hepatomegaly
  • Vomiting


SOURCES: UMLS ORPHANET

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Medium match WILLIAMS-BEUREN SYNDROME; WBS

Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management.See also the distal chromosome 7q11.23 deletion syndrome (OMIM ), which occurs between the WBS region and the MAGI2 gene (OMIM ).

WILLIAMS-BEUREN SYNDROME; WBS Is also known as chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb, williams syndrome;wms;ws;deletion 7q11.23; monosomy 7q11.23; williams-beuren syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET UMLS DOID OMIM SCTID NCIT MONDO GARD

More info about WILLIAMS-BEUREN SYNDROME; WBS

Medium match 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5

3-Methylglutaconic aciduria type V is an autosomal recessive disorder characterized by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development (summary by Davey et al., 2006 and Ojala et al., 2012).For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 Is also known as cardiomyopathy, dilated, with ataxia;dcma, mga, type v;mga5;3-methylglutaconic aciduria type 5; dcma syndrome; mga5

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: GARD OMIM MONDO SCTID ORPHANET MESH UMLS

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B

Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose and ears are flattened and appear rudimentary. Constricting bands around the extremities can restrict movement and cause digital necrosis. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. Babies who survive into infancy and beyond develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma (see {242300}) (summary by Rajpopat et al., 2011).At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass lamellar ichthyosis (LI), nonbullous congenital ichthyosis erythroderma (NCIE), and harlequin ichthyosis (Oji et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B Is also known as ichthyosis congenita, harlequin fetus type, harlequin ichthyosis;hi, 'harlequin fetus';hi; ichthyosis congenita, harlequin type; ichthyosis fetalis, harlequin type

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Cataract
  • Tics


SOURCES: ICD10 GARD SCTID ORPHANET OMIM DOID NCIT MONDO

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy, lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

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


SOURCES: DOID ORPHANET OMIM GARD UMLS MESH MONDO

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match ALEXANDER DISEASE; ALXDRD

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis


SOURCES: ORPHANET SCTID UMLS OMIM

More info about ALEXANDER DISEASE; ALXDRD

Medium match SICK SINUS SYNDROME 2; SSS2

SICK SINUS SYNDROME 2; SSS2 Is also known as sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation, atrial fibrillation with bradyarrhythmia, sinus node disease, familial, autosomal dominant, sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Brachydactyly
  • Abnormality of cardiovascular system morphology
  • Arrhythmia


SOURCES: MONDO UMLS MESH OMIM

More info about SICK SINUS SYNDROME 2; SSS2

Medium match EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1, muscular dystrophy, tardive, dreifuss-emery type, with contractures, scapuloperoneal syndrome, x-linked, formerly, humeroperoneal neuromuscular disease, formerly

Related symptoms:

  • Pica
  • Scoliosis
  • Muscle weakness
  • Myopathy
  • Flexion contracture


SOURCES: OMIM ORPHANET

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

Medium match MYOTONIC DYSTROPHY 1; DM1

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1, dystrophia myotonica;dm, steinert disease;dm1; md1; myotonic dystrophy type 1; steinert disease

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica


SOURCES: GARD UMLS OMIM DOID NCIT ORPHANET MONDO

More info about MYOTONIC DYSTROPHY 1; DM1

Medium match MYOTONIC DYSTROPHY 2; DM2

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as dystrophia myotonica 2, proximal myotonic myopathy;promm, myotonic myopathy, proximal, ricker syndrome;myotonic dystrophy type 2; proximal myotonic dystrophy; ricker disease; ricker syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Pica
  • Hearing impairment
  • Ptosis


SOURCES: SCTID NCIT DOID ICD10 ORPHANET UMLS GARD MONDO OMIM

More info about MYOTONIC DYSTROPHY 2; DM2

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Sudden cardiac death

Symptoms // Phenotype % cases
Arrhythmia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Pica Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Autosomal dominant inheritance Generalized hypotonia Cognitive impairment Ptosis Pain Scoliosis Hypertension Dysphagia Hyperlordosis Muscular dystrophy Congestive heart failure Myalgia Elevated serum creatine phosphokinase Feeding difficulties Cataract Failure to thrive Constipation Muscular hypotonia Growth delay Skeletal muscle atrophy Cryptorchidism Flexion contracture Nevus Proximal muscle weakness Tics Gait disturbance Developmental regression Abnormality of cardiovascular system morphology Osteopenia Respiratory failure Diabetes mellitus Ataxia Atrioventricular block Cardiac arrest Hepatic steatosis Prolonged QT interval Atrial fibrillation Hypertrophic cardiomyopathy Mitral valve prolapse Bradycardia Autosomal recessive inheritance Motor delay Tachycardia Seizures Cardiomyopathy

Rare Symptoms - Less than 30% cases


Self-injurious behavior Joint stiffness Heart block Dehydration Feeding difficulties in infancy Premature birth Leukoencephalopathy Cholelithiasis Paralysis Hypogonadism Hypothyroidism Precocious puberty Mental deterioration Neurological speech impairment Hydrocephalus Reduced bone mineral density Facial palsy Spontaneous abortion Rigidity Dementia Mitral regurgitation Small for gestational age Everted lower lip vermilion Palpitations Distal muscle weakness Insulin resistance Neonatal hypotonia Sleep disturbance Abnormality of the neck Stroke Dysmetria Ventricular hypertrophy Hypersomnia EMG abnormality Ventricular tachycardia Increased variability in muscle fiber diameter Ventricular fibrillation Nausea and vomiting Unsteady gait Edema Syncope Spinal rigidity Infantile onset Osteoporosis Lower limb muscle weakness Cerebral cortical atrophy Dilated cardiomyopathy Tremor Macrocephaly Intrauterine growth retardation Dysarthria Hyperreflexia Frontal balding Intellectual disability, progressive Spasticity Strabismus Intellectual disability, mild Hearing impairment Obsessive-compulsive trait Atrial flutter Hypothermia Decreased plasma carnitine Muscle stiffness Generalized muscle weakness Autistic behavior Vomiting Hepatomegaly Hypertonia Dysphonia Kyphosis Neurofibrillary tangles Delayed skeletal maturation Respiratory insufficiency Pectus excavatum Myotonia Recurrent respiratory infections Depressivity Skeletal muscle hypertrophy IgA deficiency Proptosis Stellate iris Mildly elevated creatine phosphokinase Atrophy/Degeneration involving the corticospinal tracts Cutis marmorata Encephalopathy Hyporeflexia Lipodystrophy Agenesis of corpus callosum Pyloric stenosis Hyperinsulinemia Exercise intolerance Limitation of joint mobility Acanthosis nigricans Thyroid hemiagenesis Protuberant abdomen Hyperkeratosis Prominent umbilicus Early onset of sexual maturation Frontal bossing Short neck High palate Nystagmus Muscle mounding Ichthyosis Congenital generalized lipodystrophy Ileus Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Functional abnormality of male internal genitalia Atlantoaxial dislocation Generalized lipodystrophy Sepsis Supraventricular tachycardia Dyssynergia Accelerated skeletal maturation Vocal cord dysfunction Microvesicular hepatic steatosis Abnormality of the skeletal system Microcytic anemia Hypokinesia Ectropion Splenomegaly Perineal hypospadias Eclabion 3-Methylglutaric aciduria Hypergranulosis Recurrent skin infections Erythroderma Lack of skin elasticity Glutaric aciduria Malignant hyperthermia Hearing abnormality Foot polydactyly Nonprogressive cerebellar ataxia Testicular dysgenesis Recurrent infections Elevated hepatic transaminase Descending aorta hypoplasia Hypospadias Congenital ichthyosiform erythroderma Recurrent bacterial infections Trophic changes related to pain Anemia Epidermal acanthosis Hypertriglyceridemia Optic atrophy Hirsutism Abnormality of the genital system Short finger Arthritis Postnatal growth retardation Normochromic microcytic anemia Noncompaction cardiomyopathy Hepatosplenomegaly Decreased testicular size Depressed nasal ridge Thickened skin Hand polydactyly Hypoglycemia Recurrent singultus Oxycephaly Hip dislocation Thin ribs Centrally nucleated skeletal muscle fibers Alzheimer disease Non-midline cleft lip Mask-like facies Hydrops fetalis Progressive muscle weakness Decreased fetal movement Brain atrophy Sensory neuropathy Talipes Polyhydramnios Abnormality of the endocrine system Dilatation Respiratory distress Cerebral atrophy Intellectual disability, severe Peripheral neuropathy Milia Decreased cervical spine flexion due to contractures of posterior cervical muscles Type 1 muscle fiber atrophy Atrial arrhythmia Progressive proximal muscle weakness Achilles tendon contracture Slender long bone Facial diplegia Nonimmune hydrops fetalis Childhood onset Decreased antibody level in blood Insulin insensitivity Diffuse leukoencephalopathy Type 2 muscle fiber atrophy Arteriosclerosis Elevated circulating follicle stimulating hormone level Neck flexor weakness IgM deficiency Oligospermia Epiphora IgG deficiency Hypercholesterolemia Confusion Infertility Abnormal hair quantity Limb muscle weakness Ventouse delivery Ring fibers First degree atrioventricular block Excessive daytime sleepiness Hernia of the abdominal wall Narcolepsy Percussion myotonia Personality disorder Testicular atrophy Abnormality of the upper urinary tract Abnormal EKG Gowers sign Elbow flexion contracture Hyperhidrosis Peripheral demyelination Abnormal autonomic nervous system physiology Increased CSF protein Megalencephaly Progressive spasticity Atrophy/Degeneration affecting the brainstem Bowel incontinence Dysphasia Sleep apnea Encephalitis Emotional lability Diplopia Hypotension Drowsiness Amenorrhea Tetraplegia Cerebral calcification Chorea Gliosis Abnormality of eye movement Abnormality of the cerebral white matter Pruritus Clonus Weight loss Abnormal pyramidal sign EEG abnormality Glioma Bulbar signs Lumbar hyperlordosis Vertigo Waddling gait Juvenile onset Slow progression X-linked recessive inheritance Pes cavus Blindness Sick sinus syndrome Sinus bradycardia Left ventricular noncompaction Ventricular extrasystoles Aortic regurgitation Left ventricular hypertrophy Congenital onset Astrocytoma Fatigue Brachydactyly Diffuse demyelination of the cerebral white matter Nystagmus-induced head nodding Hyperpigmented nevi Optic nerve glioma Microcoria Progressive macrocephaly Pseudobulbar signs Large face Aqueductal stenosis Muscle fibrillation Bilateral vocal cord paralysis Parathyroid hyperplasia Overfriendliness Pulmonic stenosis Hypoplasia of penis Renal hypoplasia Dental malocclusion Renal agenesis Esotropia Broad nasal tip Full cheeks Postural instability Macroglossia Thick vermilion border Vesicoureteral reflux Hypodontia Renal cyst Scarring Malabsorption Smooth philtrum Carious teeth Abnormality of the kidney Cleft lip Abnormal cardiac septum morphology Genu valgum Corneal opacity Joint hyperflexibility Broad forehead Irritability Attention deficit hyperactivity disorder Craniosynostosis Thick lower lip vermilion Hypotelorism Low-set, posteriorly rotated ears Nephritis Abnormality of dental enamel Hypogonadotrophic hypogonadism Nephrocalcinosis Increased bone mineral density Amblyopia Cardiomegaly Hemiparesis Narrow face Recurrent urinary tract infections Aortic valve stenosis Gingival overgrowth Myocardial infarction Nephrolithiasis Tetralogy of Fallot Small nail Abnormality of the cardiovascular system Hypsarrhythmia Recurrent otitis media Coarctation of aorta Open mouth Otitis media Abnormal form of the vertebral bodies Narrow forehead Type II diabetes mellitus Abnormality of extrapyramidal motor function Oral cleft Microdontia Blepharophimosis Anxiety Spina bifida occulta Short stature Atrial septal defect Ventricular septal defect Myopia Wide nasal bridge Epicanthus Visual impairment Depressed nasal bridge Abnormal facial shape Cleft palate Sensorineural hearing impairment Micrognathia Microcephaly Mild expressive language delay Renal insufficiency Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Elevated creatine kinase after exercise Hepatocellular necrosis Exercise-induced rhabdomyolysis Exercise-induced myoglobinuria Nonketotic hypoglycemia Dicarboxylic aciduria Fatigable weakness Prolonged neonatal jaundice Tachypnea EMG: myopathic abnormalities Hyperammonemia Lethargy Short nose Long philtrum Wide mouth Abnormal heart morphology Protruding ear Joint laxity Intellectual disability, moderate Umbilical hernia Proteinuria Arthralgia Kyphoscoliosis Pes planus Autism Gastroesophageal reflux Abdominal pain High forehead Macrotia Abnormality of the dentition Coarse facial features Glaucoma Absent speech Micropenis Cerebellar hypoplasia Hernia Obesity Patent ductus arteriosus Clinodactyly of the 5th finger Midface retrusion Inguinal hernia Behavioral abnormality Malar flattening Abnormality of the fingernails Hemivertebrae Medial flaring of the eyebrow Peptic ulcer Aplasia/Hypoplasia of the iris Abnormal glucose tolerance Increased nuchal translucency Death in early adulthood Thyroid hypoplasia Urethral stenosis Periorbital edema Phonophobia Rectal prolapse Dysgraphia Abnormality of nervous system morphology Arterial stenosis Bladder diverticulum Retinal vascular tortuosity Gait imbalance Abnormality of refraction Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Poor coordination Cystic renal dysplasia Periorbital fullness Cerebral ischemia Right ventricular hypertrophy Lacrimation abnormality Villous atrophy Insomnia Nevus flammeus Colonic diverticula Abnormality of the ankles Tubulointerstitial nephritis Infantile hypercalcemia Myxomatous mitral valve degeneration Elfin facies Paroxysmal bursts of laughter Abnormal carotid artery morphology Coronary artery stenosis Abnormality of the diencephalon Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Flat cornea Supravalvular aortic stenosis Nocturia Abnormality of the gastric mucosa Tubulointerstitial abnormality Abnormal social behavior Pelvic kidney Abnormal endocardium morphology Overriding aorta Renovascular hypertension Abnormality of the bladder Retinal arteriolar tortuosity Aortic arch aneurysm Renal artery stenosis Hyperacusis Vascular tortuosity Synostosis of joints Renal duplication Posterior embryotoxon Vocal cord paralysis Pointed chin Schizophrenia Portal hypertension Tracheoesophageal fistula Chronic otitis media Incoordination Increased body weight Hypoplastic toenails Abnormality of dental morphology Vertebral segmentation defect Progressive hearing impairment Polycystic ovaries Arnold-Chiari malformation Involuntary movements Adducted thumb Glucose intolerance Hypercalciuria Abnormality of the voice Redundant skin Radioulnar synostosis Hypercalcemia Abnormality of pelvic girdle bone morphology Calcinosis Sacral dimple Ischemic stroke Bicuspid aortic valve Abnormal dermatoglyphics Hoarse voice Cutis laxa Failure to thrive in infancy Open bite Sudden death Arnold-Chiari type I malformation Dyslexia Enuresis Abnormality of the cerebral vasculature Chronic constipation Large earlobe Celiac disease Blue irides Down-sloping shoulders Loss of consciousness Pulmonary artery stenosis Multiple renal cysts Patellar dislocation Abnormality of lipid metabolism Soft skin Infantile muscular hypotonia Hypoplasia of the zygomatic bone Restlessness High hypermetropia Megalocornea Prematurely aged appearance Abnormal renal morphology Abnormality of the vasculature Hallux valgus Obsessive-compulsive behavior Facial cleft Polyuria Premature graying of hair Unilateral renal agenesis Iridescent posterior subcapsular cataract


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Alopecia, related diseases and genetic alterations Lymphoma and Aggressive behavior, related diseases and genetic alterations Brachydactyly and Hirsutism, related diseases and genetic alterations Obesity and Intestinal malrotation, related diseases and genetic alterations Strabismus and Ventriculomegaly, related diseases and genetic alterations Nystagmus and Proteinuria, related diseases and genetic alterations Hypertelorism and Brain atrophy, related diseases and genetic alterations