Hypertelorism, and Pancreatitis

Diseases related with Hypertelorism and Pancreatitis

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

Top matches:

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Other less relevant matches:

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Medium match GREENBERG DYSPLASIA

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

Medium match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Pancreatitis

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Exocrine pancreatic insufficiency Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Pancreatitis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Renal insufficiency

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Delayed skeletal maturation Hearing impairment Hepatosplenomegaly Depressed nasal bridge Abnormal facial shape Seizures Micrognathia Severe short stature Epicanthus Brachydactyly Hypothyroidism Acidosis Jaundice Microcephaly Hypertension Malabsorption Splenomegaly Brachycephaly Pruritus Flat face Hepatic fibrosis Stroke Retinopathy Abnormality of the liver Cholestasis Renal dysplasia Abnormality of the skeletal system Hernia Diabetes mellitus Intrauterine growth retardation Low-set ears Cryptorchidism Delayed puberty Gingival overgrowth Abnormal heart morphology Generalized hypotonia Proteinuria Ventricular septal defect Atrial septal defect Abnormality of the kidney Ataxia Triangular face Ptosis Motor delay Edema Elevated hepatic transaminase Cardiomegaly Pigmentary retinopathy Frontal bossing Anemia Wide nasal bridge Specific learning disability Cognitive impairment Pancreatic islet-cell hyperplasia High forehead Hypertrichosis Hyperglycemia Muscular hypotonia Sensorineural hearing impairment Type I diabetes mellitus Hepatic failure

Rare Symptoms - Less than 30% cases

Cachexia Abnormal cardiac septum morphology Broad forehead Pulmonic stenosis Growth abnormality Scarring Round face Patent ductus arteriosus Abnormality of pancreas morphology Hypertriglyceridemia Steatorrhea Upslanted palpebral fissure Flexion contracture Neurodevelopmental delay Midface retrusion Hip dislocation Recurrent fractures Exotropia Blue sclerae Abnormality of neuronal migration Overgrowth Wolff-Parkinson-White syndrome Renal tubular dysfunction Pancreatic hypoplasia Enlarged kidney Intellectual disability, mild Clinodactyly Conductive hearing impairment Chronic hepatic failure Axenfeld anomaly Cirrhosis Alopecia Neoplasm Gynecomastia Hyperinsulinemia Lipoatrophy Cleft palate High palate Downslanted palpebral fissures Dilatation Clinodactyly of the 5th finger Agenesis of corpus callosum Anteverted nares Hydronephrosis Hypodontia Postaxial hand polydactyly Multicystic kidney dysplasia Barrel-shaped chest Broad alveolar ridges Macrocephaly Polyhydramnios Lymphedema Platyspondyly Epidermal acanthosis Abdominal distention Tetralogy of Fallot Cholestatic liver disease Coarctation of aorta Renal hypoplasia Pointed chin Heart murmur Long nose Renal tubular acidosis Posterior embryotoxon Hyperlordosis Pulmonary artery stenosis Peripheral pulmonary artery stenosis High, narrow palate Butterfly vertebrae Inguinal hernia Deeply set eye Hyperkeratosis Proptosis Macrotia Hypoglycemia Low-set, posteriorly rotated ears Prominent forehead Posteriorly rotated ears Generalized hirsutism Abnormal form of the vertebral bodies Ichthyosis Respiratory distress Dyspnea Fever Weight loss Skeletal muscle atrophy Hypogonadism Status epilepticus Osteoporosis Type II diabetes mellitus Tremor Gait disturbance Dysphagia Ventriculomegaly Nephrotic syndrome Feeding difficulties in infancy Hyporeflexia Areflexia Cerebellar atrophy Bilateral sensorineural hearing impairment Diarrhea Visual loss Cerebral atrophy Congestive heart failure Kyphosis Abnormality of the cardiovascular system Abnormality of the dentition Dystonia Amenorrhea Apnea Hypertonia Hyperreflexia Cataract Peripheral neuropathy Muscle weakness Pain Protruding ear Coma Abnormality of the pinna Polyneuropathy Nephropathy Anal atresia Hirsutism Short nose Chronic rhinitis Hypospadias Abnormality of cardiovascular system physiology Broad finger Plagiocephaly Hallux valgus Osteolysis Scoliosis Hyperplasia of the maxilla Patchy variation in bone mineral density Sternal punctate calcifications Elbow flexion contracture Anterior rib punctate calcifications Abnormal ossification involving the femoral head and neck Supernumerary vertebral ossification centers Hypergonadotropic hypogonadism Aspiration Hyperpigmentation of the skin Abnormality of the vertebral spinous processes Laryngeal calcification Macroglossia Histiocytosis Ascites Varicose veins Dolichocephaly Elevated erythrocyte sedimentation rate Microcytic anemia Scleroderma Polycythemia Episodic fever Severe sensorineural hearing impairment Smooth philtrum Abnormal eyebrow morphology Aspiration pneumonia Leukocytosis Tracheal calcification Reticulocytopenia Communicating hydrocephalus Stridor Decreased serum testosterone level Psoriasiform dermatitis Recurrent pharyngitis Nasal obstruction Lipodystrophy Sleep apnea Skin nodule Retrognathia Increased antibody level in blood Azoospermia Muscular hypotonia of the trunk Band keratopathy Abnormality of the calcaneus Cervical lymphadenopathy Cystic hygroma Broad palm Abnormal joint morphology Epiphyseal stippling Abnormal lung lobation Postaxial foot polydactyly Preeclampsia Mesomelia Calvarial skull defect Misalignment of teeth Decreased skull ossification Nonimmune hydrops fetalis Hypoplastic fingernail Large forehead Narrow nasal bridge Thoracic hypoplasia Lethal skeletal dysplasia Upper eyelid edema Omphalocele Bowing of the long bones Short phalanx of finger Rhizomelia Hydrops fetalis Retroperitoneal fibrosis Short ribs Flared metaphysis Bone marrow hypocellularity Bilateral camptodactyly Abnormality of the fingernails Sandal gap Disproportionate short-limb short stature Pleural effusion 11 pairs of ribs Ulnar deviation of the hand Punctate vertebral calcifications Abnormality of cholesterol metabolism Severe short-limb dwarfism Severe hydrops fetalis Abnormal leukocyte morphology Aplasia/hypoplasia of the extremities Ectopic ossification Abnormality of the orbital region Telangiectasia Multiple prenatal fractures Horizontal sacrum Short diaphyses Absent or minimally ossified vertebral bodies Abnormal pelvis bone ossification Hepatic calcification Abnormal foot bone ossification Abnormally ossified vertebrae Abnormal bone ossification Extramedullary hematopoiesis Sclerosis of skull base Metaphyseal cupping Diaphyseal thickening Ectopic calcification Stiff skin Long clavicles Hypoplastic vertebral bodies Vertebral hypoplasia Corneal arcus Absent toenail Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Abnormality of the scapula Wide intermamillary distance Bronchiectasis Coarse facial features Intracerebral periventricular calcifications Irregular tarsal ossification Ivory epiphyses of the toes Strabismus Myopia Reduced number of intrahepatic bile ducts Carcinoma Reduced pancreatic beta cells Craniosynostosis Short philtrum Stage 5 chronic kidney disease Rectourethral fistula Abnormality of skin pigmentation Short distal phalanx of finger Hypopigmentation of the skin Ivory epiphyses of the phalanges of the hand Irregular carpal bones Vesicoureteral reflux Thoracolumbar kyphosis Cone-shaped epiphyses of the phalanges of the hand Acute hepatic failure Multiple epiphyseal dysplasia Thin bony cortex Small epiphyses Enlarged thorax Carpal bone hypoplasia Narrow iliac wings Bilateral coxa valga Flattened epiphysis Central hypothyroidism Hip subluxation Decreased hip abduction Atlantoaxial dislocation Shortening of all middle phalanges of the fingers Transient neonatal diabetes mellitus Microcornea Prominent nose Irregular vertebral endplates Peripheral arterial stenosis Abnormality of the ureter Hepatocellular carcinoma Dilatation of the cerebral artery Abnormality of the vasculature Coronal craniosynostosis Intrahepatic cholestasis Renal artery stenosis Vitamin D deficiency Telangiectasia of the skin Thyroid carcinoma Abnormal pupil morphology Fat malabsorption Hypopigmentation of the fundus Arterial stenosis Abnormal anterior chamber morphology Biliary atresia Keratoconus Prolonged neonatal jaundice Gastrointestinal hemorrhage Corneal dystrophy Abnormality of the ribs Unicoronal synostosis Abnormal vertebral morphology Hemivertebrae Finger clinodactyly Spina bifida occulta Hypercholesterolemia Intrahepatic biliary atresia Chorioretinal atrophy Renal hypoplasia/aplasia Portal hypertension Multiple small medullary renal cysts Glomerulosclerosis Hypoplasia of the ulna Malnutrition Vertebral segmentation defect Ketoacidosis Overweight Primary amenorrhea Renal neoplasm Hypotrichosis Pectus carinatum Hamartoma Camptodactyly Capillary hemangioma Polysplenia Thick upper lip vermilion Lymphadenopathy Volvulus Hypoxemia Thickened helices Visceromegaly Interrupted aortic arch Femoral hernia Intestinal atresia Abnormality of the foot Global brain atrophy Lumbar scoliosis Lumbar hyperlordosis Epistaxis Mitral valve prolapse Decreased testicular size Papillary thyroid carcinoma Hypoplasia of penis Growth hormone deficiency Congenital diaphragmatic hernia Open mouth Cleft upper lip Tall stature Bilateral single transverse palmar creases Tented upper lip vermilion Polycystic kidney dysplasia Nephroblastoma Large for gestational age Full cheeks Long upper lip Abnormality of upper lip Butterfly vertebral arch Wormian bones Pneumonia Microdontia Dehydration Hepatitis Abnormality of the metaphysis Abnormality of epiphysis morphology Coxa valga Epiphyseal dysplasia Thin vermilion border Preauricular pit Spondyloepiphyseal dysplasia Short thorax Glycosuria Hydrocephalus Hypoplasia of the odontoid process Insulin-resistant diabetes mellitus Neutropenia Genu valgum Fetal ascites Ileal atresia Thymus hyperplasia Nephroblastomatosis Pes planus Naevus flammeus of the eyelid Hypoplasia of the abdominal wall musculature Renal hamartoma Nephrogenic rest Distal ileal atresia Hypermetropia Prominent xiphoid process Spasticity Obesity Micropenis Osteopenia Irritability Joint stiffness Hyperuricemia Long foot Limb undergrowth Aortic aneurysm Chronic kidney disease Atrioventricular block Decreased nerve conduction velocity Hypercalciuria Bilateral ptosis Hemiplegia Abnormality of mitochondrial metabolism Hyperkinesis Hyponatremia Ophthalmoparesis Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Easy fatigability Goiter Focal segmental glomerulosclerosis Purpura Clonus Cardiac arrest Truncal ataxia EMG abnormality Hypogonadotrophic hypogonadism Exercise intolerance Macular degeneration Schizophrenia External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Ischemic stroke Hypopigmented skin patches Mutism Hemiplegia/hemiparesis Overlapping toe Hallucinations Heart block Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Xerostomia Hypoparathyroidism Distal arthrogryposis Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Cardiorespiratory arrest Facial diplegia Drowsiness Pulmonary embolism Adrenal insufficiency Multiple lipomas Bundle branch block Aphasia Vestibular dysfunction Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Vertebral fusion Primary adrenal insufficiency Progressive sensorineural hearing impairment Glomerulopathy Basal ganglia calcification Hyperthyroidism Rhabdomyolysis Thyroiditis Abnormality of immune system physiology Cerebral visual impairment Abnormality of retinal pigmentation Tubulointerstitial nephritis Gastroesophageal reflux Dementia Myoclonus Abdominal pain Cerebral cortical atrophy Gait ataxia Autism Photophobia Cerebellar hypoplasia EEG abnormality Myalgia Anxiety Hypertrophic cardiomyopathy Mental deterioration Developmental regression Erythema Rod-cone dystrophy Constipation Attention deficit hyperactivity disorder Short neck Nystagmus Feeding difficulties Visual impairment Dysarthria Optic atrophy Fatigue Respiratory insufficiency Cardiomyopathy Elevated serum creatine phosphokinase Blindness Myopathy Vomiting Headache Depressivity Encephalopathy Arrhythmia Nyctalopia Neurological speech impairment Anorexia Generalized-onset seizure Sensory impairment Migraine Increased serum lactate Memory impairment Hip dysplasia Cerebral calcification Pulmonary arterial hypertension Generalized myoclonic seizures Psychosis Ventricular hypertrophy Atrial fibrillation Hemiparesis Involuntary movements Decreased body weight Left ventricular hypertrophy Sudden cardiac death Abnormal cerebellum morphology Dilated cardiomyopathy Dysmetria Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Carious teeth Nausea and vomiting Paresthesia Muscle cramps Confusion Vertigo Peripheral axonal neuropathy Lactic acidosis Nausea Polymicrogyria Postural instability Aortic dissection Visual hallucinations Intestinal malrotation Female pseudohermaphroditism Ovarian cyst Fasting hypoglycemia Long penis Thick nasal alae Abnormality of the abdominal wall Absence of subcutaneous fat Postprandial hyperglycemia Concave nasal ridge Elfin facies Adipose tissue loss Prominent nipples Asymmetry of the breasts Telecanthus Sparse hair Finger syndactyly Small face Severe failure to thrive Dry skin Precocious puberty Thick vermilion border Nail dysplasia Thick lower lip vermilion Insulin resistance Acanthosis nigricans Cutis laxa Clitoral hypertrophy Thickened nuchal skin fold Large hands Glucose intolerance Decreased muscle mass Hypermelanotic macule Reduced subcutaneous adipose tissue Severe intrauterine growth retardation Hearing abnormality Facial asymmetry Underdeveloped nasal alae Wide mouth Odontogenic neoplasm Deviation of finger Accessory oral frenulum Lobulated tongue Hamartoma of tongue Tongue nodules Lip pit Malar flattening Abnormality of the pancreas Polydactyly Skeletal dysplasia Narrow chest Micromelia Pulmonary hypoplasia Postaxial polydactyly Hypoplasia of the maxilla Pancreatic cysts Hypoplasia of the zygomatic bone Dandy-Walker malformation Hand polydactyly Choanal atresia Abnormality of the face Short toe Abnormality of dental enamel Reduced bone mineral density Coarse hair Brittle hair Chronic otitis media Abnormality of the skull Cone-shaped epiphysis Preaxial hand polydactyly Open bite Milia Tarsal synostosis Foot polydactyly Median cleft lip Small for gestational age Postnatal growth retardation Increased CSF lactate Abnormal nerve conduction velocity Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Renal Fanconi syndrome Muscle fiber atrophy Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Writer's cramp Psychomotor deterioration Abnormal mitochondrial morphology Speech apraxia Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Left ventricular failure Retinal pigment epithelial atrophy Dysesthesia Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Paronychia Edema of the dorsum of hands Umbilical hernia Hematuria Sensorimotor neuropathy Proximal placement of thumb Shawl scrotum Ankle contracture Pancreatic fibrosis Mandibular prognathia Renal cyst Postnatal microcephaly Cyanosis Increased body weight Rickets Poor coordination Dark urine Recurrent infections Recurrent respiratory infections Progressive microcephaly Decreased fetal movement Cochlear malformation Episodic quadriplegia Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Bilateral intracranial calcifications Progressive cerebellar ataxia Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Delayed speech and language development Talipes equinovarus Thin upper lip vermilion Distal muscle weakness Seborrheic keratosis


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