Ataxia, and Full cheeks

Diseases related with Ataxia and Full cheeks

In the following list you will find some of the most common rare diseases related to Ataxia and Full cheeks that can help you solving undiagnosed cases.


Top matches:

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Medium match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

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Other less relevant matches:

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Medium match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Low match GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH


GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Top 5 symptoms//phenotypes associated to Ataxia and Full cheeks

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Full cheeks. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Myopia

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Muscular hypotonia Depressed nasal bridge Feeding difficulties Macrotia Autism Spasticity Sleep disturbance Intellectual disability, severe Delayed speech and language development Gastroesophageal reflux Abnormal facial shape Aggressive behavior Ventriculomegaly Obesity Diabetes mellitus Micropenis Thick vermilion border Open mouth Sensorineural hearing impairment Constipation Narrow forehead Abnormality of the dentition Short nose Abnormality of the cardiovascular system Downturned corners of mouth Behavioral abnormality Long philtrum Gait ataxia Round face Edema Talipes equinovarus Dysarthria Open bite Apnea Hypertelorism Encephalopathy Esotropia Short neck Increased body weight Poor suck Delayed skeletal maturation Hyperlordosis Hypothyroidism Wide nasal bridge Pectus excavatum Respiratory tract infection Kyphosis Osteopenia Widely spaced teeth Growth hormone deficiency Tapered finger Motor delay High forehead Abnormality of the kidney Inguinal hernia Sleep apnea Pain Cataract Recurrent respiratory infections Small hand Cerebral atrophy Neurological speech impairment Malar flattening Abnormal heart morphology Clinodactyly of the 5th finger Delayed puberty Intellectual disability, moderate Anxiety Pes planus Coarse facial features Prominent forehead Upslanted palpebral fissure Cerebral cortical atrophy Brachycephaly Clinodactyly Anteverted nares Dysmetria Congestive heart failure Cleft palate Absent speech High palate Nystagmus Failure to thrive in infancy Low-set ears Hyperreflexia Genu valgum Cleft lip Attention deficit hyperactivity disorder Small for gestational age Hypertonia Hyperactivity EEG abnormality

Rare Symptoms - Less than 30% cases


Aortic valve stenosis Hypogonadotrophic hypogonadism Polyhydramnios Chronic otitis media Pulmonic stenosis Redundant skin Hyperextensible skin Type II diabetes mellitus Bicuspid aortic valve Infantile muscular hypotonia Paralysis Dry skin Cutis laxa Obsessive-compulsive behavior Hypoplasia of the zygomatic bone Posteriorly rotated ears Intellectual disability, mild Cognitive impairment Incoordination Self-injurious behavior Acrocyanosis Thickened helices Hypertension Increased nuchal translucency Myopathy Frontal bossing Osteoporosis Arnold-Chiari type I malformation Cerebellar atrophy Subvalvular aortic stenosis Abnormality of refraction Abnormality of cardiovascular system morphology Midface retrusion Hyporeflexia Joint laxity Stroke Carious teeth Short palm Falls Decreased fetal movement Macroglossia Hydronephrosis Vomiting Abnormal palate morphology Hepatic steatosis Hernia Depressivity Abnormality of lipid metabolism Glucose intolerance Umbilical hernia Hypertrophic cardiomyopathy Ventricular septal defect Low-set, posteriorly rotated ears Feeding difficulties in infancy Irritability Scarring Abnormal cardiac septum morphology Leukemia Pruritus Dolichocephaly Hypermetropia Atrial septal defect Macrocephaly Hemiparesis Short attention span Otitis media Hoarse voice Sacral dimple Myocardial infarction Coarctation of aorta Impaired pain sensation Overweight Chronic constipation Thick upper lip vermilion Vesicoureteral reflux Deep palmar crease Abnormal renal morphology Cardiomegaly Hyperacusis Precocious puberty Pelvic kidney Dental malocclusion Neoplasm Ptosis Aplasia/Hypoplasia of the corpus callosum Oral cleft Abdominal obesity Deeply set eye Progressive microcephaly Abdominal distention Hypopigmentation of the skin Hypoplasia of the brainstem Narrow mouth Astigmatism Kyphoscoliosis Wide mouth Aspiration Autistic behavior Protruding ear Abnormality of the pinna Postnatal growth retardation Mandibular prognathia Downslanted palpebral fissures Pes cavus Hypogonadism Sparse hair Long palpebral fissure Hypotelorism Renal hypoplasia Fine hair Down-sloping shoulders Abnormal vertebral morphology Polyuria Truncal ataxia Optic atrophy Visual impairment Flexion contracture Tremor Single transverse palmar crease Broad nasal tip External genital hypoplasia High, narrow palate Muscular hypotonia of the trunk Large earlobe Severe global developmental delay Neonatal hypotonia Hypoglycemia Areflexia Long face Proptosis Hypsarrhythmia Thick lower lip vermilion Drooling Specific learning disability Cerebellar hypoplasia Hypoplasia of penis Decreased body weight Dysphonia Hypercalciuria Cholelithiasis Hallux valgus Adducted thumb Polycystic ovaries Facial cleft Abnormality of pelvic girdle bone morphology Acromicria Ocular albinism Reduced bone mineral density Arnold-Chiari malformation Schizophrenia Poor gross motor coordination Almond-shaped palpebral fissure Restlessness Ischemic stroke Hypercalcemia Clitoral hypoplasia Elevated hepatic transaminase Progressive hearing impairment Loss of consciousness Anteverted ears Tracheoesophageal fistula Hepatic failure Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Poor fine motor coordination Vertebral segmentation defect Abnormality of the liver Nephritis Hypothermia Celiac disease Abnormality of the voice Cor pulmonale High hypermetropia Generalized hypopigmentation Prematurely aged appearance Portal hypertension Premature graying of hair Frontal upsweep of hair Radioulnar synostosis Hypopnea Gingival overgrowth Abnormal dermatoglyphics Psychotic episodes Malabsorption Central adrenal insufficiency Hypoplastic labia minora Nausea and vomiting Corneal opacity Broad forehead Blepharophimosis Craniosynostosis Joint stiffness Developmental regression Proteinuria Arthralgia Glaucoma Abdominal pain Smooth philtrum Elevated serum creatine phosphokinase Patent ductus arteriosus Renal insufficiency Narrow palm Respiratory distress Gait disturbance Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Joint hyperflexibility Everted lower lip vermilion Spina bifida occulta Recurrent urinary tract infections Abnormality of the fingernails Abnormality of dental enamel Nephrocalcinosis Hemivertebrae Erysipelas Pointed chin Increased bone mineral density Narrow face Disseminated intravascular coagulation Insomnia Triangular mouth Amblyopia Temperature instability Nephrolithiasis Involuntary movements Postural instability Abnormal form of the vertebral bodies Mitral regurgitation Recurrent otitis media Small nail Ventricular hypertrophy Abnormality of extrapyramidal motor function Mitral valve prolapse Tetralogy of Fallot Dehydration Microdontia Renal agenesis Chest pain Sudden cardiac death Hypodontia Chromosome breakage Amenorrhea Cholestasis Abnormal social behavior Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Clumsiness Abnormal location of ears Insulin resistance Bradycardia Flat cornea Spontaneous abortion Narrow palpebral fissure Scrotal hypoplasia Abnormality of the diencephalon Nasal speech Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Hyperinsulinemia Food intolerance Radial deviation of finger Emotional lability Large hands Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Inflammation of the large intestine Abnormal carotid artery morphology Medial flaring of the eyebrow Skeletal muscle hypertrophy Dilatation Febrile seizures Gastrointestinal hemorrhage Sepsis Oligohydramnios Short foot Polymicrogyria Arachnodactyly Infertility Psychosis Abnormality of the nervous system Photophobia Thin upper lip vermilion Weight loss Respiratory failure Syndactyly Elfin facies Fever Atrophy/Degeneration involving the corticospinal tracts Cutaneous photosensitivity Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Primary amenorrhea Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Albinism Synostosis of joints Megalocornea Striae distensae Gait imbalance Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Tubulointerstitial nephritis Right ventricular hypertrophy Blue irides Vocal cord paralysis Decreased liver function Multiple renal cysts Patellar dislocation Decreased plasma carnitine Abnormality of the vasculature Pulmonary embolism Pulmonary artery stenosis Hip dysplasia Hypopigmentation of hair Poor coordination Soft skin Hypoventilation Nevus flammeus Posterior embryotoxon Iris hypopigmentation Central hypotonia Oligomenorrhea Hypoplasia of the fovea Periorbital fullness Peripheral pulmonary artery stenosis Nocturia Thyroid hypoplasia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Adrenal insufficiency Decreased muscle mass Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Truncal obesity Abnormal endocardium morphology Polyphagia Retinal vascular tortuosity Lacrimation abnormality Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Narrow nasal bridge Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Myeloid leukemia Cystic renal dysplasia Bladder diverticulum Puberty and gonadal disorders Peripheral axonal neuropathy Abnormality of the hairline Breathing dysregulation Peripheral neuropathy Overhanging nasal tip Triangular nasal tip Broad fingertip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Happy demeanor Pes valgus Abnormal pattern of respiration Abnormality of the helix Abnormality of metabolism/homeostasis Clubbing of fingers Echolalia Misalignment of teeth Esophagitis Hiatus hernia Hyperventilation Hodgkin lymphoma Dysphasia Aphasia Supernumerary nipple Overlapping toe Cupped ear Clubbing Short metatarsal Brachydactyly Conductive hearing impairment Hypopigmented skin patches Lissencephaly Duodenal atresia Bruxism Self-mutilation Drowsiness Protruding tongue Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Impulsivity Abnormality of the urinary system Abnormality of the outer ear Hypercholesterolemia Sinusitis Microtia Stereotypy Hypoplasia of dental enamel Heterotopia Pachygyria Omphalocele Broad-based gait Hypertriglyceridemia Microcornea Delayed eruption of teeth Retinal detachment Nephropathy Paresthesia Synophrys Lethargy Coarse hair Mutism Abnormality of the larynx Hypoplasia of the pons Pancreatitis Spastic tetraparesis Lower limb spasticity Tetraparesis Sloping forehead Inability to walk Lactic acidosis Poor speech Difficulty walking Acidosis Babinski sign Hypospadias Pontocerebellar atrophy Progressive encephalopathy Depressed nasal tip Thoracic scoliosis Poor head control Elbow flexion contracture Underdeveloped nasal alae Dyskinesia Central apnea Hypomimic face Broad neck Mild short stature Low anterior hairline Spastic gait Dental crowding Paraplegia Spastic paraplegia Agitation Male hypogonadism Intellectual disability, progressive Fatigue Finger clinodactyly Abnormal autonomic nervous system physiology Postnatal microcephaly Aganglionic megacolon Cyanosis Convex nasal ridge Wide intermamillary distance Prominent nose Thick eyebrow Prominent nasal bridge Short philtrum Pneumonia Abnormality of the skeletal system Increased vertebral height Birth length less than 3rd percentile Kinetic tremor Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Ketoacidosis High pitched voice Brisk reflexes Hyperglycemia Polydipsia Oligodontia Type I diabetes mellitus Blue sclerae Delayed myelination Tall chin Broad face Cavum septum pellucidum Hyperkeratosis pilaris Abnormal heart valve morphology Absent eyelashes Enlarged kidney Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormality of the sternum Abnormality of the ulna Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Large for gestational age Absent eyebrow Heart murmur Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Premature skin wrinkling Abnormality of the gastrointestinal tract Bilateral ptosis Multiple lentigines Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Sparse or absent eyelashes Cavernous hemangioma Woolly hair Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Sparse eyebrow Brittle hair Recurrent ear infections Dysphagia Nail dystrophy Pectus carinatum Erythema Abnormality of the eye Telecanthus Hyperkeratosis Hyperhidrosis Alopecia Thrombocytopenia Splenomegaly Blindness Cardiomyopathy Hydrocephalus Hepatomegaly Hypotrichosis Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Premature atrial contractions Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Abnormality of the cerebral white matter Ichthyosis Deep philtrum Lymphedema Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Hemangioma Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Cerebral visual impairment Hyperpigmentation of the skin Cafe-au-lait spot Abnormality of skin pigmentation Thickened skin Inflammatory abnormality of the skin Low posterior hairline Progressive visual loss Webbed neck Premature birth Intestinal malrotation Nevus Abnormal bleeding Palmoplantar keratoderma Retinal dystrophy Bruising susceptibility Bulbous nose Joint hypermobility CNS hypomyelination



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